A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676607



Internal ID9596026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127270879..127272536hg38UCSC Ensembl
chr9:130033158..130034815hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381658
hg191658
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, essv6273616, essv5410868, essv5895235, essv6519845, essv6409524, essv5722585, essv6367376, essv6266935, essv6031879, essv6416257, essv6264776, essv5962988, essv6396793, essv5734063, essv6356646, essv5872994, essv5411111, essv5846630, essv5699998, essv5510008, essv5460923, essv5884507, essv5967342, essv5613032, 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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676607
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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