038bd0cd3f7c84ee984905608dfdd27d02cc61ec max Tue Jun 2 05:19:51 2026 -0700 [Claude] lrSv1kLin: add 1000 Genomes linear long-read SV subtrack (1,218 samples, hg38+hs1) Two native VCFs from the Eichler lab (GRCh38 and CHM13/T2T-CHM13v2), merged with Truvari v5.2.0 and annotated with population-level AFs (EUR, AMR, EAS, AFR, SAS). Track is alpha-only; not added to lrSvAll -- data not yet published. hg38: 587,779 SVs; hs1: 614,522 SVs. Co-Authored-By: Claude Sonnet 4.6 , refs #36258 diff --git src/hg/makeDb/trackDb/human/lrSv.ra src/hg/makeDb/trackDb/human/lrSv.ra index 9244f30c19c..04e990000cd 100644 --- src/hg/makeDb/trackDb/human/lrSv.ra +++ src/hg/makeDb/trackDb/human/lrSv.ra @@ -275,30 +275,66 @@ filter.insLen 0:97718 filterByRange.insLen on filterLabel.insLen Insertion Length filter.AC 0:463 filterByRange.AC on filterLabel.AC Allele Count filter.alleleFreq 0:1 filterByRange.alleleFreq on filterLimits.alleleFreq 0:1 filterLabel.alleleFreq Allele Frequency filter.snarlLevel 0:10 filterByRange.snarlLevel on filterLabel.snarlLevel Snarl Level skipEmptyFields on + track hprc2JasmineSv + parent lrSv + bigDataUrl /gbdb/$D/lrSv/hprc2Jasmine.bb + shortLabel HPRC2 Jasmine 231 SVs + longLabel Structural Variants from 231 HPRC v2 Assemblies (14 SV Callers, Jasmine-merged; Hall Lab / Liao) + type bigBed 9 + + itemRgb on + visibility dense + mouseOver $name ($svType) svLen=$svLen insLen=$insLen samples=$nSamples/$alleleNumber AF=$alleleFreq callers=$nCallers ($callers) + filterValues.svType DEL,INS + filterType.svType multipleListOr + filterLabel.svType SV Type + filter.svLen 0:30176500 + filterByRange.svLen on + filterLabel.svLen SV Length + filter.insLen 0:30176500 + filterByRange.insLen on + filterLabel.insLen Insertion Length + filter.AC 0:231 + filterByRange.AC on + filterLabel.AC Carrier Sample Count + filter.alleleFreq 0:1 + filterByRange.alleleFreq on + filterLimits.alleleFreq 0:1 + filterLabel.alleleFreq Carrier Frequency + filter.nCallers 1:14 + filterByRange.nCallers on + filterLabel.nCallers Number of Supporting Callers + filterValues.callers DELLY,DeBreak,DeepVariant,PAV,SVDSS,SVIM,SVIM-asm,Sniffles2,cuteSV,cuteSV-asm,dipcall,longcallD,pbsv,sawfish + filterType.callers multipleListAnd + filterLabel.callers Supporting Callers + filterValues.sources PAV,dipcall,longcallD + filterType.sources multipleListAnd + filterLabel.sources Source Pipeline + skipEmptyFields on + track hgsvc2Sv parent lrSv bigDataUrl /gbdb/$D/lrSv/hgsvc2.bb shortLabel HGSVC2 32 SVs longLabel Structural Variants from 32 Haplotype-Resolved Genomes (HGSVC2 freeze 4, Ebert et al. 2021) type bigBed 9 + itemRgb on visibility dense mouseOver $name ($svType) svLen=$svLen insLen=$insLen samples=$sampleCount AC=$AC AF=$popAllAf filterValues.svType DEL,INS,INV filterType.svType multipleListOr filterLabel.svType SV Type filter.svLen 0:57207414 filterByRange.svLen on filterLabel.svLen SV Length @@ -458,15 +494,63 @@ mouseOver $name ($svType) svLen=$svLen insLen=$insLen genes=$geneCount filterValues.svType DEL,INS,DUP,INV,CPX filterType.svType multipleListOr filterLabel.svType SV Type filter.svLen 0:1321484 filterByRange.svLen on filterLabel.svLen SV Length filter.insLen 0:31711 filterByRange.insLen on filterLabel.insLen Insertion Length filter.geneCount 0:200 filterByRange.geneCount on filterLabel.geneCount Gene Count skipEmptyFields on + # NOT FOR RELEASE: data received from Eichler lab via email, not yet published. + # Do not add to lrSvAll merged track until a preprint or paper is available. + track lrSv1kLin + parent lrSv + bigDataUrl /gbdb/$D/lrSv/lin1218.bb + shortLabel 1KG Linear 1218 SVs + longLabel Structural Variants from 1,218 Individuals (1000 Genomes, Linear Long-read Sequencing) + type bigBed 9 + + itemRgb on + visibility dense + mouseOver $name ($svType) svLen=$svLen insLen=$insLen AC=$AC/$AN AF=$AF AF_AFR=$afAfr AF_EUR=$afEur samples=$NS + searchIndex name + filterValues.svType DEL,INS + filterType.svType multipleListOr + filterLabel.svType SV Type + filter.svLen 0:99565 + filterByRange.svLen on + filterLabel.svLen SV Length (bp) + filter.insLen 0:99968 + filterByRange.insLen on + filterLabel.insLen Insertion Length (bp) + filter.AC 0:2436 + filterByRange.AC on + filterLabel.AC Allele Count + filter.AF 0:1 + filterByRange.AF on + filterLimits.AF 0:1 + filterLabel.AF Allele Frequency + filterByRange.afAfr on + filterLimits.afAfr 0:1 + filterLabel.afAfr AF African + filterByRange.afAmr on + filterLimits.afAmr 0:1 + filterLabel.afAmr AF Admixed American + filterByRange.afEas on + filterLimits.afEas 0:1 + filterLabel.afEas AF East Asian + filterByRange.afEur on + filterLimits.afEur 0:1 + filterLabel.afEur AF European + filterByRange.afSas on + filterLimits.afSas 0:1 + filterLabel.afSas AF South Asian + filter.NS 1:1218 + filterByRange.NS on + filterLabel.NS Samples with Genotype Data + skipEmptyFields on +