A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2673780

Internal ID9593199
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29237097..29239401hg38UCSC Ensembl
chr22:29633086..29635390hg19UCSC Ensembl
Allele length
AssemblyAllele length
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, essv5852260, essv5614667, essv5523960, essv6128271, essv6280891, essv6456095, essv6444927, essv5856528, essv5491797, essv5692787, essv6432101, essv6005447, essv6046969, essv6158906, essv6276315, essv6022120, essv5789180, essv6079142, essv6587611, essv6373105, essv6267577, essv6097085, essv6339716, essv5813926, essv6413701, essv6553346, essv6140090, essv6155024, essv5664631, essv5622238, essv6189589, essv5779260, essv5887776, essv6177591, essv5527333, essv6486835, essv6596593, essv6550784, essv6318044, essv6303712, essv5953277, essv6431503, essv5529157, essv5998968, essv6053682, essv6036066, essv5670728, essv5889957, essv5746909, essv5765890, essv6459323, essv5510651, essv6540025, essv6351203, essv6376828, essv6342735, essv5534335, essv5631558, essv6200299, essv5739260, essv6584605, essv6454802, essv6086774, essv5458862, essv5435924, essv5497853, essv5490973, essv6019213, essv6468688, essv6340772, essv5444032, essv6215625, essv5671817, essv5773969, essv6249043, essv6099201, essv5847808, essv6272253, essv5830210, essv5517641, essv6474215, essv6323244, essv6334390, essv5816816, essv6380042, essv6463955, essv6134915, essv5532129, essv5690195, essv6120981, essv5651603, essv5498332, essv5811253, essv5806762, essv6338710, essv5719467, essv6349173, essv5728637, essv6181354, essv5553261, essv6387470, essv5693898, essv5750674, essv6169138, essv6204375, essv5964430, essv6515016, essv6549992, essv5688119, essv5747355, essv6248203, essv5975168, essv6264373, essv6339198, essv6167246, essv6405002, essv5877487, essv5687595, essv5498975, essv5397965, essv5827740, essv5641232, essv6257110, essv6362116, essv6000248, essv6124929, essv6487201, essv6424601, essv5728619, essv5485983, essv6543144, essv6578533, essv5468020, essv5941502, essv6000526, essv5598107, essv6505733, essv5833137, essv6502699, essv6122629, essv6066836, essv5562174, essv5529622, essv5592779, essv6507739, essv6522928, essv6006160, essv5798524, essv6234364, essv6203142, essv5576311, essv5921982, essv5944825, essv5520914, essv5599720, essv6056263, essv5729113, essv6101830, essv5845853, essv5419310, essv5668537, essv5906738, essv6022875, essv6263119, essv5591156, essv5711189, essv5412359, essv5473173, essv5731158, essv5538484, essv5673372, essv5643633, essv5928317, essv5954243, essv5577110, essv6030800, essv5852085, essv5842523, essv6097301, essv6448904, essv5577142, essv6167018, essv5884061, essv6541882, essv5955070, essv6077689, essv6293795, essv5595870, essv5855629, essv5607664, essv5852403, essv5662067, essv6466792, essv5787831, essv5610229, essv6263584, essv6006920, essv6508051, essv5625800, essv6289451, essv5897001, essv6516585, essv5644723, essv5812153, essv6464419, essv5616420, essv5703570, essv5999300, essv6574650, essv6283447, essv5560318, essv5854699, essv6442987, essv6499457, essv5513816, essv5998102, essv5739068, essv5969724
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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2673780
Sample Size1151
Observed Gain0
Observed Loss231
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer