[chr3:182470122-183895290][DUP][SVLEN=1425168bp]

jzook / testHG008curation

This repository is primarily for the Genome in a Bottle Consortium to curate structural variants in HG008

https://www.nist.gov/programs-projects/cancer-genome-bottle

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[chr3:182470122-183895290][DUP][SVLEN=1425168bp] #168

Open jzook opened 1 month ago

jzook commented 1 month ago

chr3 182470122 Minda_98 N <DUP> . PASS SVLEN=1425168;SVTYPE=DUP;SUPP_VEC=ILL_MantaDUP:TANDEM:72823:0:1:0:0:0,ILL_gridss67bf_7173h,PB_severus_BND4921_2,PB_ID_52984_2,ONT_severus_DUP5687,ILL_2492475892:2,PB_r_261,ONT_r_167,ONT_ID_12067_2,ONT_Sniffles2.DUP.3DFM2

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr3:182470122#ribbon

aysegokce commented 1 month ago

Looks correct. Exact breakpoints. No LOH. Looks clonal.

jzook commented 1 month ago

looks right to me too