A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2676607

Internal ID9596026
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127270879..127272536hg38UCSC Ensembl
chr9:130033158..130034815hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5636878, essv5546353, essv5737465, essv6301972, essv6247209, essv5811510, essv5446018, essv5465271, essv5895235, essv6273616, essv5410868, essv6519845, essv6409524, essv5722585, essv6367376, essv6266935, essv6031879, essv6416257, essv6264776, essv5962988, essv6396793, essv5734063, essv6356646, essv5872994, essv5411111, essv5846630, essv5699998, essv5460923, essv5510008, essv5884507, essv5613032, essv5967342, essv6299091, essv5493357, essv6456851, essv6059881, essv5658948, essv5914406, essv6265578, essv6277532, essv5672299, essv6010150, essv5442363, essv6001757, essv5633094, essv6195706, essv6166125, essv5791335, essv5809881, essv5770229, essv6265976, essv6239939, essv6135956, essv5963777, essv5770823, essv6307585
SamplesNA19137, NA19904, NA18871, NA19311, NA19469, NA19455, NA19430, NA19359, NA19920, HG00553, NA19379, NA18507, HG01188, NA19236, NA20322, NA19147, NA18868, HG01107, NA19914, NA19239, NA20356, NA19197, NA19443, NA19471, NA19722, NA19429, NA18916, NA19316, NA20341, NA19190, NA19213, NA19313, NA19395, NA19172, NA19189, NA20291, NA19374, NA19703, NA20126, NA19901, NA18858, NA19138, NA20332, NA19394, NA19431, NA20289, NA19327, NA18499, NA19371, HG01108, NA19470, NA19240, HG01462, NA19473, NA19468, NA19385
Known GenesGARNL3
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2676607
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0

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