[chr7:154017977-154018141][DEL][SVLEN=164bp]

[jzook]

chr7 154017977 Minda_138 N <DEL> . PASS SVLEN=164;SVTYPE=DEL;SUPP_VEC=PB_d_428,ONT_d_198,PB_severus_DEL6934,ONT_severus_DEL8000

https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr7:154017977#ribbon

[mikolmogorov]

• Seems like a clear deletion
• No other SVs nearby
• Inside large arm-scale LOH
• Breakpoints accurate
• Appears subclonal
• Inside segdup - some secondary mappings, but reads supporting deletion have MAPQ 60
• Not showing up in Illumina alignments (since segdup)