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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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[chrX:144037790-144037911][DEL][SVLEN=121bp] #302

Open jzook opened 1 month ago

jzook commented 1 month ago

chrX 144037790 Minda_156 N <DEL> . PASS SVLEN=121;SVTYPE=DEL;SUPP_VEC=PB_severus_DEL7989,ONT_severus_DEL9280,PB_d_516,ONT_d_263

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chrX:144037790#ribbon

chunlinxiao commented 3 weeks ago

This DEL (120bps) was supported by only few PacBio HiFi reads (3 reads), ONT_UL (2 reads), and ONT_std (3 reads). Likely clonal.

  1. Ribbon evidence image image

  2. IGV evidence image