A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675114



Internal ID9594533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42714765..42714878hg38UCSC Ensembl
Outerchr21:42714728..42714928hg38UCSC Ensembl
Innerchr21:44134875..44134988hg19UCSC Ensembl
Outerchr21:44134838..44135038hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38201
hg19201
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675114
Frequency
Sample Size1151
Observed Gain0
Observed Loss93
Observed Complex0
Frequencyn/a


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