A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676246



Internal ID9595665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109680694..109702000hg38UCSC Ensembl
Outerchr1:109680023..109702470hg38UCSC Ensembl
Innerchr1:110223316..110244622hg19UCSC Ensembl
Outerchr1:110222645..110245092hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3822448
hg1922448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e199
Supporting Variantsessv5691972, essv5623193, essv6423757, essv6356362, essv6387453, essv6120332, essv6508731, essv6475295, essv5832389, essv6461637, essv6127774, essv5469045, essv6560612, essv5895859, essv6574084, essv6531809, essv6302033, essv5758325, essv6506171, essv6259267, essv6513044, essv5698337, essv5773077, essv6237867, essv6355504, essv6331858, essv6172158, essv5441982, essv6538360, essv6469585, essv6198052, essv6061930, essv6106238, essv5477443, essv6137400, essv5397986, essv5591568, essv5993005, essv5990426, essv5498290, essv5821975, essv6549118, essv5991326, essv6078663, essv5438810, essv6019592, essv6357056, essv5396824, essv6477296, essv5744249, essv5613749, essv6253048, essv5630872, essv6353007, essv5515427, essv6117238, essv6280037, essv5885510, essv6337594, essv5519580, essv5823936, essv5748975, essv5893229, essv5702924, essv5776045, essv6429035, essv6028738, essv6463894, essv5496052, essv5640018, essv6585059, essv5879995, essv6212860, essv5512556, essv6512339, essv5807343, essv5724856, essv5677911, essv5881724, essv5915970, essv5710002, essv5714952, essv6431686, essv5680261, essv5868928, essv6484832, essv5623732, essv5746720, essv6517575, essv5817632, essv6130886, essv5505982, essv5671922, essv6145577, essv6117646, essv6021968, essv6318086, essv6595159, essv6488031, essv5749323, essv5579448, essv5523414, essv5571951, essv5849531, essv5684856, essv5728694, essv5965462, essv6341188, essv6383071, essv5402254, essv5433291, essv5813887, essv5988380, essv6346710, essv5440107, essv6408605, essv5527983, essv5846451, essv5395744, essv5751590, essv6257200, essv6022588, essv6067135, essv6429438, essv5789848, essv6595985, essv6571082, essv6586716, essv6094351, essv5814140, essv5580330, essv6249779, essv5637467, essv6148999, essv5915218, essv5764050, essv5722194, essv5459256, essv5735257, essv6039125, essv6328808, essv5699530, essv6481336, essv6491290, essv6556207, essv6166840, essv6235565, essv5473837, essv6396392, essv5601940, essv5564256, essv6426225, essv5440167, essv5877599, essv5821167, essv6288756, essv5597445, essv5956254, essv6018284, essv6579118, essv5858891, essv6059333, essv5624650, essv5903612, essv5529857, essv6039695, essv6040970, essv6043600, essv6196685, essv6098621, essv5913360, essv5919607, essv6420043, essv6353348, essv6010910, essv6451127, essv5750616, essv5444456, essv6431905, essv6405075, essv5972426, essv6182254, essv6274518, essv5898674, essv5695879, essv6414979, essv5966341, essv6357465, essv5480204, essv6572161, essv6135049, essv6464249, essv5697882, essv5976355, essv6218694, essv5797468, essv6058856, essv6558288, essv6235642, essv6344551, essv5988992, essv6089879, essv5868204, essv6249092, essv5980985, essv5792889
SamplesHG00096, HG01060, HG00114, HG01441, NA19648, HG01521, HG01098, HG01356, HG00143, HG00231, HG01462, HG00249, NA19664, HG01359, HG01052, HG00100, HG01188, HG01389, HG01374, HG01066, HG00640, HG00244, NA19777, HG01456, NA19684, HG00737, HG00115, HG01518, HG00150, HG01461, HG01051, HG00261, HG01522, HG01140, HG01250, HG00641, NA19746, HG00138, NA19660, HG01070, HG00251, HG00122, NA19762, NA19728, HG01351, NA19678, HG01488, HG01168, NA19723, HG01492, HG00736, HG01354, NA19771, HG01083, HG00247, HG01365, NA19681, HG00158, HG01134, HG00139, HG01455, HG01069, NA19651, HG01080, HG01067, HG00120, HG00148, HG00106, HG01519, HG01170, HG00236, HG00156, HG01495, HG00262, NA19719, HG01072, HG00232, NA19731, HG01176, HG01440, NA19722, HG00160, NA19725, HG01198, HG00637, HG00159, HG01048, HG01550, HG00253, NA19789, HG00264, HG00108, HG01124, HG00260, HG01353, HG00137, HG00133, HG01183, HG01136, HG00154, HG00149, HG00731, NA19657, HG01187, HG01171, HG01384, HG00732, HG01095, HG01515, NA19717, NA19663, HG01498, HG00263, NA19788, HG01149, HG00239, NA19776, HG00740, HG01390, HG01047, NA19654, HG01102, HG01073, NA19774, HG00250, NA19655, HG01197, HG01383, NA19750, HG01182, HG00117, HG00157, HG00140, HG01497, HG01334, NA19761, HG00152, HG00146, NA19682, NA19756, HG00141, HG00246, HG00126, HG01107, NA19675, HG01204, HG01075, NA19685, HG01148, NA19729, HG00124, NA19652, HG00155, HG00254, HG00119, HG01190, HG00265, NA19749, NA19747, NA19732, HG01253, HG00734, HG00136, HG00638, NA19773, HG01357, HG01174, HG01494, HG00237, NA19679, HG01113, HG01137, HG00116, HG01108, HG00256, NA19783, HG01489, HG00125, NA19759, HG00111, NA19785, HG01491, HG00259, NA19716, HG01254, HG01055, HG00123, HG00112, NA19770, HG00131, NA19780, HG01251, HG00252, NA19661, HG01377, HG01378, NA19755, HG01082, NA19758, HG01125, HG01097, HG00554, HG01437, HG01061, NA19676, HG01516
Known GenesGSTM1, GSTM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676246
Frequency
Sample Size1151
Observed Gain0
Observed Loss206
Observed Complex0
Frequencyn/a


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