[chrX:79649369-79650935][DEL][SVLEN=1566bp]

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

1 stars 0 forks source link

[chrX:79649369-79650935][DEL][SVLEN=1566bp] #299

Open jzook opened 3 weeks ago

jzook commented 3 weeks ago

chrX 79649369 Minda_153 N <DEL> . PASS SVLEN=1566;SVTYPE=DEL;SUPP_VEC=PB_ID_50174_2,PB_d_507,ONT_ID_49538_2,ONT_d_257,ILL_MantaDEL:265925:0:1:0:0:0,ILL_1934641871:2,PB_severus_DEL7891,ONT_severus_DEL9153,PB_Sniffles2.DEL.235M16,ONT_Sniffles2.DEL.24AM16,ILL_gridss295fb_9589h

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chrX:79649369#ribbon

jzook commented 1 week ago

Likely exact clonal del in region with multiple LINEs. Germline larger del visible downstream