A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673780



Internal ID9593199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29237097..29239401hg38UCSC Ensembl
chr22:29633086..29635390hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382305
hg192305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5929056, essv5751588, essv5837372, essv5514289, essv5963971, essv5995104, essv6234941, essv6411289, essv5512494, essv6114884, essv6400841, essv6158576, essv6049154, essv5614667, essv5852260, essv6128271, essv5523960, essv6280891, essv6456095, essv6444927, essv5491797, essv5856528, essv6432101, essv5692787, essv6005447, essv6046969, essv6158906, essv6276315, essv6022120, essv6587611, essv5789180, essv6079142, essv6373105, essv6267577, essv6097085, essv6339716, essv5813926, essv6413701, essv6553346, essv6140090, essv6155024, essv5664631, essv5622238, essv5779260, essv6177591, essv6189589, essv5887776, essv5527333, essv6486835, essv6596593, essv6550784, essv6318044, essv6303712, essv5953277, essv5529157, essv5998968, essv6053682, essv6431503, essv5670728, essv6036066, essv5889957, essv5746909, essv5765890, essv6459323, essv5510651, essv6540025, essv6351203, essv6376828, essv6342735, essv5534335, essv5631558, essv6200299, essv5739260, essv6454802, essv6584605, essv5490973, essv5435924, essv5497853, essv6086774, essv5458862, essv6019213, essv6468688, essv6340772, essv5444032, essv5671817, essv5773969, essv6215625, essv6249043, essv6099201, essv5847808, essv6272253, essv5830210, essv6474215, essv5517641, essv6323244, essv6334390, essv5816816, essv6380042, essv6463955, essv6134915, essv5532129, essv5690195, essv6120981, essv5651603, essv5498332, essv5811253, essv5806762, essv5719467, essv6349173, essv6338710, essv6181354, essv5728637, essv6387470, essv5553261, essv5693898, essv5750674, essv6169138, essv6204375, essv6515016, essv5964430, essv6549992, essv5688119, essv5747355, essv6248203, essv5975168, essv6264373, essv6339198, essv6405002, essv6167246, essv5877487, essv5687595, essv5498975, essv5397965, essv5827740, essv5641232, essv6362116, essv6257110, essv6000248, essv6124929, essv6487201, essv5728619, essv6424601, essv5485983, essv6578533, essv6543144, essv5468020, essv5941502, essv6000526, essv6505733, essv5598107, essv6502699, essv5833137, essv6122629, essv6066836, essv5562174, essv5529622, essv5592779, essv6507739, essv6522928, essv6006160, essv5798524, essv6234364, essv6203142, essv5921982, essv5576311, essv5944825, essv5520914, essv5599720, essv5729113, essv6056263, essv6101830, essv5845853, essv5668537, essv5419310, essv5906738, essv6263119, essv6022875, essv5591156, essv5711189, essv5412359, essv5473173, essv5731158, essv5538484, essv5673372, essv5643633, essv5928317, essv5954243, essv6030800, essv5577110, essv5842523, essv5852085, essv6097301, essv6448904, essv5577142, essv6167018, essv6541882, essv5884061, essv5955070, essv6077689, essv6293795, essv5595870, essv5855629, essv5607664, essv5852403, essv5662067, essv6466792, essv6263584, essv5610229, essv5787831, essv6006920, essv6508051, essv6289451, essv5625800, essv5897001, essv6516585, essv5644723, essv5812153, essv6464419, essv5616420, essv6574650, essv5999300, essv5703570, essv6283447, essv6442987, essv5560318, essv5854699, essv5513816, essv6499457, essv5969724, essv5998102, essv5739068
SamplesNA19012, HG00309, NA18870, HG01359, HG00536, NA20514, NA19904, NA18951, NA18534, NA18630, NA18871, NA19819, NA19404, NA18952, NA18975, NA18874, HG00500, HG01083, NA18612, NA19209, HG00186, NA12347, NA18501, NA19401, HG00565, NA20535, NA19311, NA20508, NA19469, NA20346, HG00310, NA18570, NA19003, NA19455, NA19435, NA10847, NA20296, HG00657, HG00614, NA19334, NA19331, NA19451, NA20816, NA18517, NA19338, NA20342, HG00148, NA19920, HG00553, NA18489, NA19210, HG00701, NA12058, HG01188, NA18963, HG01461, HG00177, NA19701, NA18488, NA19236, NA19474, HG00319, NA19084, HG00253, NA20322, NA18505, NA19467, NA18943, NA19147, HG00188, NA19776, HG00479, NA18628, NA19438, NA18868, NA12414, NA19463, NA19726, HG00158, HG00556, NA19428, NA18912, HG01384, NA18508, NA19059, NA19076, NA20819, HG00593, NA20356, NA19390, NA19652, HG00421, NA19068, NA18563, NA19197, NA19443, HG00096, NA19471, NA19900, HG00372, NA18856, NA19397, HG00330, NA07048, NA19429, NA19440, NA19066, HG00419, NA11843, NA12829, NA12400, NA18637, NA19835, NA20282, HG01253, NA18916, HG00174, HG00637, NA18982, NA19681, HG00243, HG00254, NA19663, NA19679, NA19457, NA19700, NA20589, NA19728, HG00373, NA19247, NA19360, HG00159, HG00267, HG01437, NA19395, NA12716, NA19129, NA19189, NA12892, NA19372, HG00653, HG01191, NA20348, NA20512, NA19373, NA18498, NA18486, NA18968, NA18986, NA19102, HG00263, NA18510, NA19713, HG01073, HG00273, NA19704, NA20814, NA19332, NA19909, NA20797, HG01494, NA19159, NA19382, NA19318, NA18985, NA19462, HG00151, NA20525, NA20581, NA19138, NA19376, NA12272, NA18983, HG00611, NA20332, NA06984, NA19394, NA19403, NA18565, HG00663, NA12889, NA19116, HG00262, NA18631, NA20287, NA18971, NA19434, NA19818, HG00608, NA19446, HG00654, HG01390, NA18614, NA19452, HG00530, HG00285, NA19063, NA19327, HG00656, NA19160, NA18499, NA19732, HG00422, NA18924, NA19371, HG00708, HG01108, NA19070, NA19470, NA18984, NA19346, HG00324, HG00690, NA18549, NA18574, NA19204, NA18908, NA19381, NA19473, HG00626, NA06994, NA19087, NA19092, HG00702, HG00704, NA19385, NA19750, NA19466, HG01067, NA19439, HG00361
Known GenesEMID1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673780
Frequency
Sample Size1151
Observed Gain0
Observed Loss231
Observed Complex0
Frequencyn/a


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