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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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[chr7:68927903-68946929][DUP][SVLEN=19026bp] #206

Open jzook opened 1 month ago

jzook commented 1 month ago

chr7 68927903 Minda_136 N <DUP> . PASS SVLEN=19026;SVTYPE=DUP;SUPP_VEC=PB_r_321,ONT_r_212,ILL_MantaDUP:TANDEM:131962:0:1:0:0:0,PB_ID_27064_2,ILL_801581629:2,ILL_gridss130bf_2090h,ONT_severus_BND7749_2

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr7:68927903#ribbon

mikolmogorov commented 1 month ago

Part of a complex subclonal chromoplexy event https://github.com/jzook/testHG008curation/issues/205, see the link for discussion.