Open jzook opened 2 weeks ago
Appears to be true large (10MB) DEL with exact breakpoint although % of reads supporting DEL differ.
contains smaller SVs #280 and #281
Left breakpoint appears exact with left alignment, with supplementary reads mapping mapping to right breakpoint +1 Deletion in LGALS14 gene
Right breakpoint appears exact with left alignment, with supplementary reads mapping mapping to right breakpoint +1 Deletion in LRRC4B gene
Smaller fraction of reads support deletion at left breakpoint (~18% PB, ~30% ONT, ~19% element) Approximately half reads support DEL with all techs at right breakpoint This is likely associated with overlapping variants in this region
chr19 39706584 Minda_67 N <DEL> . PASS SVLEN=10847666;SVTYPE=DEL;SUPP_VEC=PB_severus_DEL3306,PB_r_198,ONT_severus_DEL3735,ONT_ID_51104_2,ONT_r_120,ILL_MantaDEL:247507:0:1:0:0:0,PB_ID_62347_2,ILL_1605497385:2,ILL_gridss269fb_11920h,PB_Sniffles2.DEL.20CM12,ONT_Sniffles2.DEL.21CM12
https://v2.genomeribbon.com/?session=https://42basepairs.com/download/s3/giab-data/ribbon-json/ribbon-hg008-cov-bedpe.json&locus=chr19:39706584#ribbon