Tandem repeats are among the most polymorphic loci in the genome due to high
rates of repeat unit insertions and deletions caused primarily by polymerase slippage
during DNA replication.
The Tandem Repeat Variation track contains a collection of tracks
displaying population-level genetic variation at tandem repeat loci across
the human genome. Short tandem repeats (STRs), also known as
microsatellites, are consecutive repetitions of 1-6 nucleotide motifs.
Variable Number Tandem Repeats (VNTRs) are tandem repeats of typically
7-100 bp.
This super track provides genome-wide tandem repeat annotations, allele frequency data from
large-scale population cohorts, and curated disease-associated STR loci.
Note that the gnomAD track container also includes an STR variation track, which is not part
of the container here.
Tracks in this collection
WebSTR —
1.7 million STR loci from the EnsembleTR panel with allele frequency data from the
1000 Genomes Project (3,550 individuals across five continental populations).
See the WebSTR track documentation for full details.
TRExplorer —
5.6 million tandem repeat loci (STRs and VNTRs) from the
TRExplorer catalog at the Broad Institute, with population allele
frequency data from TenK10K, HPRC256, and AoU1027 cohorts.
See the TRExplorer track documentation for full details.
STRchive —
75 disease-associated tandem repeat loci curated from published literature, with
pathogenic repeat thresholds, inheritance modes, and disease annotations.
See the STRchive track documentation for full details.
ToMMo 61K STR —
174,300 STR loci with allele count distributions from 61,000 Japanese individuals
(Tohoku Medical Megabank Organization), genotyped with Expansion Hunter.
See the ToMMo STR track documentation for full details.
1KG Vienna ONT VNTR —
361,362 VNTR loci with allele statistics from 1,019 samples of the 1000 Genomes
Oxford Nanopore long-read sequencing project (Vienna), genotyped with VAMOS.
Unlike the other STR tracks which use short-read data, this track is based on
long-read sequencing which can span longer tandem repeat regions.
See the Vienna VNTR track documentation for full details.
Credits
Thanks to the data providers of the individual tracks listed above.
See each track's documentation page for specific credits.