marbl HG002-issues issues

marbl / HG002-issues

HG002 human reference genome issue tracking and polishing

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issues

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29bp INS in AG-rich region chr17_MATERNAL:19,892,165-19,892,528

#685 jzook opened 4 months ago
0
32bp INS next to diTR chr14_MATERNAL:33,622,162-33,622,279

#684 jzook opened 4 months ago
0
281bp del in hsat1a in chr4_PATERNAL:52,721,732-52,722,119

#683 jzook opened 4 months ago
0
Large error at segdup at end of GSATII in chr14_PATERNAL:18,347,448-18,348,454

#682 jzook opened 4 months ago
0
Missing ~172bp sequence in chr1_PATERNAL:8561421-8561474

#681 jzook opened 5 months ago
0
Missed 102 base heterozygous deletion at chr15_MATERNAL:26836841-26836942

#680 nhansen opened 5 months ago
0
Tandem repeat sequence too short at chr14_MATERNAL:107,224,612-107,233,706

#679 nhansen opened 5 months ago
1
126-bp false insertion at chr14_MATERNAL:40992221-40992366

#678 nhansen opened 5 months ago
0
Flagger-detected deletion of tetramer GAAA repeat around chr1_PATERNAL:164,490,100

#677 nhansen opened 7 months ago
0
Flagger-detected region of low coverage and clipping at chr1_PATERNAL:164,471,995-164,519,071

#676 nhansen opened 7 months ago
0
Poor consensus due to low HiFi coverage at chr1_MATERNAL:836,790-893,824

#675 nhansen opened 7 months ago
1
Possibly collapsed repeat at chr16_PATERNAL:45,735,392-45,828,318

#674 nhansen opened 7 months ago
0
Collapsed ~2kb repeat around chr13_MATERNAL:958,545-985,179

#673 nhansen opened 7 months ago
0
Larger localized issue in the hg002v1.0 assembly AT-microsatellite chr10_MATERNAL:110,134,550-110,136,922

#672 jzook opened 7 months ago
0
Localized issue in the hg002v1.0 assembly at chr11_PATERNAL:17826918 due to de novo mutation that matches an HG003 allele

#671 nhansen opened 7 months ago
0
Localized issue in the hg002v1.0 assembly at chr11_MATERNAL:17806346 due to de novo diTR variant that matches HG003 variant

#670 jzook opened 7 months ago
2
Misphased simple tandem repeat at chr10_PATERNAL:98945239-98945283

#669 nhansen opened 7 months ago
2
Misphased simple tandem repeat at chr10_MATERNAL:99,073,347-99,073,387

#668 nhansen opened 7 months ago
2
Poor consensus quality at chr12_PATERNAL:130,083,000-130,084,200

#667 nhansen opened 8 months ago
0
Poor consensus quality at chr12_MATERNAL:54,203,389-54,203,897

#666 nhansen opened 8 months ago
1
850 extra bases around chr11_PATERNAL:53118200-53119300

#665 nhansen opened 8 months ago
0
Possible insertion of hundreds of extra bases in a long C/T rich stretch at chr11_MATERNAL:31,305,332-31,305,733

#664 nhansen opened 8 months ago
0
Larger localized issue at chr10_PATERNAL:118657102-118657835

#663 nhansen opened 8 months ago
0
13kb false duplication at chr10_MATERNAL:43,216,000-43,245,000

#662 nhansen opened 8 months ago
5
False het SNV at chr21_MATERNAL:11543767

#661 nhansen opened 10 months ago
0
Ambiguity code M at chr8_MATERNAL:126720079

#660 nhansen opened 10 months ago
0
Ambiguity code Y at chr3_PATERNAL:42065937

#659 nhansen opened 10 months ago
0
Ambiguity code K at chr1_PATERNAL:73256576

#658 nhansen opened 10 months ago
0
rDNA replaced by N's at chr22_PATERNAL:2633586-3713463

#657 nhansen opened 10 months ago
0
rDNA replaced by N's at chr22_MATERNAL:2717382-8063143

#656 nhansen opened 10 months ago
0
rDNA replaced by N's at chr21_PATERNAL:2675311-4976001

#655 nhansen opened 10 months ago
0
rDNA replaced by N's at chr21_MATERNAL:4238291-7910254

#654 nhansen opened 10 months ago
0
rDNA replaced by N's at chr15_PATERNAL:2973704-5724253

#653 nhansen opened 10 months ago
0
rDNA replaced by N's at chr15_MATERNAL:2267477-5710241

#652 nhansen opened 10 months ago
0
rDNA replaced by N's at chr14_PATERNAL:3463693-4966830

#651 nhansen opened 10 months ago
0
rDNA replaced by N's at chr14_MATERNAL:3463000-8633000

#650 nhansen opened 10 months ago
1
rDNA replaced by N's at chr13_MATERNAL:3641000-9777500

#649 nhansen opened 10 months ago
5
Missing het SNV at chr1_MATERNAL 176516702

#648 jzook opened 10 months ago
0
Update issue templates

#647 nhansen closed 10 months ago
0
Issue: chr19_PATERNAL:59769051-59769051

#646 nhansen closed 1 year ago
0
Issue: chr18_PATERNAL:3454587-3454587

#645 nhansen closed 1 year ago
6
Issue: chr18_MATERNAL:27582987-27582989

#644 nhansen closed 1 year ago
1
Issue: chr17_MATERNAL:74731577-74731577

#643 nhansen closed 1 year ago
1
Issue: chr16_MATERNAL:26017038-26017038

#642 nhansen closed 1 year ago
1
Issue: chr14_MATERNAL:91488995-91488995

#641 nhansen closed 1 year ago
0
Issue: chr10_MATERNAL:122420994-122420996

#640 nhansen closed 1 year ago
1
Issue: chr10_MATERNAL:25771917-25771917

#639 nhansen closed 1 year ago
0
Issue: chr6_PATERNAL:138175962-138175962

#638 nhansen closed 1 year ago
2
Issue: chr6_PATERNAL:33386398-33386398

#637 nhansen closed 1 year ago
0
Issue: chr5_PATERNAL:16576567-16576567

#636 nhansen closed 1 year ago
0