A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675114

Internal ID9594533
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42714765..42714878hg38UCSC Ensembl
Outerchr21:42714728..42714928hg38UCSC Ensembl
Innerchr21:44134875..44134988hg19UCSC Ensembl
Outerchr21:44134838..44135038hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5663744, essv5443627, essv6355252, essv6502040, essv5644926, essv6391955, essv5967515, essv6072147, essv5668076, essv5637715, essv6299961, essv5658541, essv6021183, essv5942327, essv6507104, essv6364714, essv5693357, essv5743089, essv5503655, essv6075244, essv5770736, essv5849126, essv5965456, essv5920397, essv6158353, essv5959415, essv5642533, essv5835894, essv5977192, essv6455877, essv6594812, essv6137084, essv5719968, essv5673254, essv5684408, essv6264318, essv6279792, essv6587500, essv5899748, essv5898688, essv5467343, essv6513622, essv5517516, essv6548010, essv5402360, essv5808772, essv5875181, essv6078835, essv6269021, essv5438497, essv5447787, essv6304595, essv5794735, essv5734941, essv5757992, essv5457117, essv6327703, essv5974563, essv5473464, essv6191422, essv6487768, essv6592161, essv5976716, essv6282694, essv6472780, essv6178205, essv5881348, essv6574132, essv6024113, essv6254000, essv6105336, essv5683581, essv6368438, essv5705495, essv5636556, essv5726572, essv6239341, essv5595617, essv5598046, essv6247458, essv6480445, essv6518938, essv6199221, essv6316265, essv6114156, essv6449901, essv5939515, essv5637056, essv5988057, essv5526358, essv6111713, essv6295664, essv5903661
SamplesHG01357, HG00613, HG01441, HG00313, HG00537, HG00252, HG00318, HG00536, HG00607, HG00344, HG01353, HG00418, HG01072, HG01052, HG00437, HG00500, NA18612, HG00449, NA18570, HG00261, HG00463, NA19359, HG00428, HG00475, HG00542, HG01174, HG00326, NA18546, HG00683, HG00280, HG00335, HG00557, HG00699, NA18557, HG00353, HG00479, NA18632, HG00543, HG00154, NA19428, HG00346, HG00250, HG01375, HG00421, HG00583, NA18536, HG01061, HG00689, NA19397, NA18638, HG00419, HG00584, HG00662, HG00436, HG00620, NA19380, HG01437, HG00108, HG00653, NA19374, HG00268, HG01066, HG00672, HG00478, HG00513, HG00524, HG00329, HG00512, HG01070, NA18562, HG01060, NA18606, NA18582, HG00590, HG00443, HG00650, HG00138, HG00580, HG00448, HG00654, HG00281, HG00285, HG01366, HG00693, HG00251, HG00320, NA18549, HG01374, NA19381, HG00671, HG00278, HG00136, HG00531
Known GenesPDE9A
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2675114
Sample Size1151
Observed Gain0
Observed Loss93
Observed Complex0

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