A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667140



Internal ID9586559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38491963..38492068hg38UCSC Ensembl
chr21:39863887..39863992hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6526464, essv5408314, essv6173627, essv6274178, essv6193825, essv6096745, essv5674925, essv5726048, essv6386360, essv5773622, essv6574387, essv6479336, essv6589725, essv5430189, essv6140233, essv5414188, essv5850212, essv6027527, essv5417335, essv5503292, essv6275830, essv6202007, essv5514592, essv5942239, essv5867214, essv5944560, essv5971617, essv5607359, essv5520623, essv5940140, essv5553163, essv6493789, essv6373679, essv6183106, essv6393402, essv6122590, essv5545653, essv5618347, essv6448348, essv6543788, essv5789470, essv6265738, essv5956450, essv6161039, essv5701245, essv6544487, essv5741493, essv6478776, essv6530124, essv6017173, essv6291643, essv5849995, essv5691815, essv6125930, essv6048724, essv5898044, essv5841560, essv6267163, essv6035674, essv5399558, essv5550551, essv6413713, essv5681669, essv6083192, essv5888262, essv6277847, essv5945051, essv6595473, essv5684122, essv6580110, essv5857989, essv5487857, essv5524677, essv6432356, essv5440225, essv5465812, essv5711863, essv6499569, essv5834593, essv6159518, essv5825703, essv6389522, essv6392614, essv6130799, essv5489172, essv6269913, essv6029556, essv6315131, essv5682457, essv6190478, essv5869889, essv6310875, essv5421896, essv5957277, essv5765688, essv6474297, essv5740209, essv6323664, essv5813238, essv6258035, essv6301167, essv6168782, essv5662890, essv6172033, essv6328732, essv6529439, essv5935190, essv6418767, essv6334893, essv5454987, essv5881243, essv5512508, essv6363996, essv5798815, essv5424268, essv5600768, essv6592012, essv6413081, essv5981565, essv6434808, essv6535376, essv5974828, essv6494653, essv5916569, essv5560635, essv6189838, essv6093192, essv5684733, essv6382554, essv5677315, essv5929391, essv5645331, essv6586357, essv6336079, essv5501278, essv5844448, essv5531692, essv6251866, essv5797793, essv5944197, essv6185852, essv5883769, essv5687229, essv6181257, essv6223875, essv6118156, essv5636081, essv6003752, essv5970660, essv5865289, essv5650729, essv6454887, essv6310255, essv6367991, essv5483058, essv5987124, essv6411560, essv6045854, essv6040561, essv6025652, essv5877618, essv5621447, essv5533330, essv6331717, essv6098436, essv6366442, essv5938611, essv6239514, essv5870259, essv6319168, essv5656341, essv6548787, essv6554795, essv5808241, essv5635786, essv5514957, essv5769502, essv6363169, essv6101984, essv6119395, essv5703921, essv6216100, essv5983668, essv6190519, essv5891900
SamplesHG01441, NA19012, HG00152, NA12249, HG00252, HG00318, NA12750, NA20787, HG00257, NA12748, NA18616, NA11930, NA07037, HG00418, NA20785, NA20506, NA12342, HG01055, NA20752, NA18952, HG00145, HG01173, HG00186, NA12347, HG00131, NA20544, NA19401, HG00565, NA20508, HG00310, NA18550, HG00261, NA19435, NA18603, NA19670, NA20759, HG01051, HG00117, NA19788, HG01492, NA20816, HG01488, NA18947, HG00375, HG00148, NA19920, NA19782, HG01350, NA12005, HG00139, HG01188, HG00111, NA19651, HG00335, HG00557, HG01101, NA19682, NA11893, HG00331, HG00319, HG00253, NA18557, NA12044, NA19776, HG00479, NA18949, NA19654, NA20586, HG00256, HG00342, HG00115, HG00154, HG00321, NA12763, NA19982, HG00346, HG01384, HG00250, NA19054, NA20515, NA19652, NA18566, NA20811, NA12155, NA18622, NA18960, NA20807, NA12273, HG00330, NA12761, HG00338, NA20541, NA18609, NA19774, HG00125, NA12829, HG01136, NA11894, NA20520, HG00264, HG00254, NA19663, HG00276, HG00284, NA12234, HG00237, HG00343, NA12144, NA12751, NA12006, NA19000, NA19360, NA18537, NA12892, HG01191, HG01066, NA20512, HG00732, NA19716, NA06986, NA20753, HG00260, HG00239, NA19664, HG00672, HG00273, HG01170, HG00232, HG01069, NA20814, HG00249, NA20818, NA11892, HG00277, HG01080, HG01351, NA20815, HG00513, NA20582, HG00153, HG01070, NA20766, HG01060, NA18579, NA19789, HG01149, NA18940, NA12891, NA18582, HG01137, NA19921, NA20537, NA20756, NA18983, NA19078, HG00663, NA12156, HG00262, NA19446, HG01390, NA12878, NA11992, HG00123, HG00281, HG00285, NA12399, NA12546, NA19655, NA18499, NA18571, NA11932, NA11829, HG00251, HG01177, HG00275, HG00324, NA18532, HG00473, HG00336, NA20517, NA20772, HG00278, HG00136, HG01354, HG00327
Known GenesERG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667140
Frequency
Sample Size1151
Observed Gain0
Observed Loss185
Observed Complex0
Frequencyn/a


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