172bp mosaic DEL at chr1:151220118-151220291

genome-in-a-bottle / HG008-curations

Curations of variants in HG008 tumor/normal pair

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172bp mosaic DEL at chr1:151220118-151220291 #3

Open jzook opened 5 months ago

jzook commented 5 months ago

Severus call, which looks correct Chr: chr1 Position: 151220118-151220291 ID: severus_DEL361 Reference: N* Alternate: Qual: 60 Type: SYMBOLIC Is Filtered Out: No

Alleles: Alternate Alleles: Allele Frequency: -1.0

Variant Attributes PRECISE: true STRANDS: +- MAPQ: 60.0 PHASESETID: 150274906 SVTYPE: DEL HP: 1 END: 151220291 SVLEN: 173

jzook commented 5 months ago

Would need to look at single cell data to know what fraction of cells and whether it was in the same cells as the 1q del.