ef61e73fc416622d8557ec2439df2344a1cc80c3 max Tue Jun 9 15:10:01 2026 -0700 lrSv: replace HPRC v2.0 pangenome SV track with v2.1 (hprc2v21Sv) Drop the v2.0 wave-decomposed hprc2Sv track and add hprc2v21Sv built from the HPRC v2.1 minigraph-cactus raw vg deconstruct VCFs (gref95.ro), on both hg38 (GRCh38 path, 596,063 SVs) and hs1 (T2T-CHM13 path, 608,435 SVs). The v2.1 files lack per-allele TYPE/LEN, so the new converter classifies INS/DEL by parsimony-trimming REF/ALT and the net length change. The v2.0 build recipe, converter and schema are kept but commented out in the makeDocs in case wave-decomposed VCFs are released again, refs #36258 diff --git src/hg/makeDb/trackDb/human/lrSv.html src/hg/makeDb/trackDb/human/lrSv.html index c9c68e0f0a9..7d5560c1eac 100644 --- src/hg/makeDb/trackDb/human/lrSv.html +++ src/hg/makeDb/trackDb/human/lrSv.html @@ -127,39 +127,39 @@ <td>186</td> <td>809,711</td> </tr> <tr> <td><a href="hgTrackUi?g=decodeSv">deCODE 3,622</a></td> <td>3,622</td> <td>Icelandic general population</td> <td>No</td> <td>~17x ONT</td> <td>133,886</td> <td>0</td> <td>127</td> <td>861,080</td> </tr> <tr> - <td><a href="hgTrackUi?g=hprc2Sv">HPRC v2</a></td> + <td><a href="hgTrackUi?g=hprc2v21Sv">HPRC v2.1</a></td> <td>233</td> <td>HPRC release-2 pangenome (CHM13 + diverse 1KG assemblies)</td> <td>No</td> <td>~60x HiFi + ~30x ONT (pangenome graph)</td> - <td>1,483,114</td> + <td>596,063</td> <td>50</td> - <td>280</td> - <td>97,718</td> + <td>276</td> + <td>1,064,897</td> </tr> <tr> <td><a href="hgTrackUi?g=hgsvc2Sv">HGSVC2</a></td> <td>32</td> <td>HGSVC2 haplotype-resolved assemblies (5 superpopulations)</td> <td>No</td> <td>>40x PacBio CLR + >20x HiFi (+ Strand-seq)</td> <td>111,746</td> <td>50</td> <td>168</td> <td>57,207,414</td> </tr> <tr> <td><a href="hgTrackUi?g=hgsvc3Sv">HGSVC3</a></td> <td>65</td> @@ -284,37 +284,37 @@ replicated SVs (deletions, insertions, duplications, inversions) called with pbsv and merged with JASMINE. The matched GA4K small-variant callset (SNVs and short indels) lives alongside other population allele-frequency resources as <a href="hgTrackUi?g=ga4kSnv">GA4K 552 PacBio LR</a> in the Variant Frequencies track collection. </p> <h3><a href="hgTrackUi?g=decodeSv">deCODE 3,622 SVs</a></h3> <p> High-confidence structural variants from 3,622 Icelanders (deCODE genetics), sequenced with Oxford Nanopore long reads. ~134k SVs (deletions, insertions and combined insertion/deletion events). Site-only callset with annotated surrounding tandem-repeat regions. </p> -<h3><a href="hgTrackUi?g=hprc2Sv">HPRC v2 SVs</a></h3> +<h3><a href="hgTrackUi?g=hprc2v21Sv">HPRC v2.1 SVs</a></h3> <p> Structural variants derived from the Human Pangenome Reference Consortium -release-2 minigraph-cactus pangenome graph, built from 233 PacBio HiFi +release-2.1 minigraph-cactus pangenome graph, built from 233 PacBio HiFi haplotype-resolved assemblies (CHM13 + diverse 1000 Genomes samples). -~1.5M SV-sized alleles (INS, DEL, COMPLEX, INV) extracted with -<tt>vg deconstruct</tt> and decomposed with <tt>vcfwave</tt> (WFA2). +About 596k SV-sized alleles (insertions and deletions) extracted from the +graph with <tt>vg deconstruct</tt>. </p> <h3><a href="hgTrackUi?g=hgsvc2Sv">HGSVC2 32 SVs</a></h3> <p> Structural variants from 32 haplotype-resolved diploid genomes (HGSVC2 freeze 4, Ebert et al. 2021). ~112k SVs (deletions, insertions and inversions) called from phased de novo assemblies with PAV, with per-variant 1000 Genomes population allele frequencies (insertions and deletions) and rich structural/gene annotations. An earlier HGSVC release complementary to <a href="hgTrackUi?g=hgsvc3Sv">HGSVC3</a>. </p> <h3><a href="hgTrackUi?g=hgsvc3Sv">HGSVC3 65 SVs</a></h3> <p> Structural variants from 65 diverse individuals sequenced and de novo