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 <noreply@anthropic.com> , refs #36258 diff --git src/hg/makeDb/scripts/lrSv/lrSv1kLin1218.as src/hg/makeDb/scripts/lrSv/lrSv1kLin1218.as new file mode 100644 index 00000000000..6249d903e31 --- /dev/null +++ src/hg/makeDb/scripts/lrSv/lrSv1kLin1218.as @@ -0,0 +1,26 @@ +table lrSv1kLin1218 +"1000 Genomes linear long-read structural variants (1,218 samples)" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "Variant name" + uint score; "Score" + char[1] strand; "Strand" + uint thickStart; "Thick start (same as chromStart)" + uint thickEnd; "Thick end (same as chromEnd)" + uint reserved; "Item color" + string svType; "SV Type|DEL or INS" + int svLen; "SV Length|Length of the variant on the reference in base pairs" + int insLen; "Insertion Length|Length of inserted sequence, 0 for DEL" + int AC; "Allele Count|Number of alternate alleles observed" + int AN; "Allele Number|Total number of alleles in called genotypes" + float AF; "Allele Frequency|Overall allele frequency across all samples" + float afAfr; "AF African|Allele frequency in African samples" + float afAmr; "AF Admixed American|Allele frequency in Admixed American samples" + float afEas; "AF East Asian|Allele frequency in East Asian samples" + float afEur; "AF European|Allele frequency in European samples" + float afSas; "AF South Asian|Allele frequency in South Asian samples" + int NS; "Sample Count|Number of samples with genotype data" + int numConsolidated; "Consolidated Samples|Number of samples consolidated into this call by Truvari" + )