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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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[chr7:68930591-68950312][BND][JoinedTo=chr7:68950311]] #207

Open jzook opened 1 month ago

jzook commented 1 month ago

chr7 68930591 Minda_137 N N]chr7:68950311] . PASS SVLEN=19720;SVTYPE=BND;SUPP_VEC=ONT_severus_INV7750,ONT_ID_41898_2,PB_ID_27162_2,ILL_3492764831:2,ILL_MantaBND:131944:1:2:0:0:0:1,PB_r_322_1,ONT_r_213_1,ILL_gridss130bb_2096h

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr7:68930591#ribbon

mikolmogorov commented 1 month ago

Part of a complex subclonal chromoplexy even, discussed here: https://github.com/jzook/testHG008curation/issues/205