A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2669729

Internal ID9589148
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106915512..106918846hg38UCSC Ensembl
chr11:106786238..106789572hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5783917, essv6182579, essv6094158, essv6433390, essv5930927, essv6154586, essv6147508, essv5639705, essv6354307, essv6384281, essv6510072, essv6314834, essv5451616, essv5474773, essv6228519, essv6386590, essv6217677, essv6311224, essv5558236, essv5614275, essv6585288, essv6432873, essv5738678, essv5955822, essv6053851, essv6522428, essv5968014, essv5995692, essv6224716, essv6448233, essv5915298, essv5577461, essv6401429, essv5806879, essv5580942, essv5786107, essv5537704, essv5948217, essv6133611, essv5935920, essv6064197, essv5907226, essv6420773, essv6103588, essv5779608, essv5910543, essv5503976, essv6112145, essv6568171, essv5663504, essv6557742, essv6531375, essv5522782, essv6134013, essv6017946, essv5513051, essv5977390, essv5913007, essv6112730, essv5858751, essv5851365, essv6499232, essv6349218, essv6566217, essv6491945, essv6534794, essv5825923, essv6028290, essv5794986, essv5568193, essv5542683, essv6299427, essv6534782, essv6007192, essv6066424, essv5691805, essv5766112, essv6102102, essv6487980, essv5527087, essv5547309, essv6311668, essv5764706, essv5821045, essv6117301, essv6157243, essv6406586, essv5400247, essv6082954, essv6256701, essv5847233, essv5793332, essv5395712, essv5603996, essv5645930, essv6311176, essv6358194, essv5676404, essv5623415, essv6179812, essv6183001, essv5748079, essv6597410, essv5755823, essv5835578, essv6215968, essv5559508, essv5888764, essv5648460, essv6009987, essv5800097, essv5652168, essv6558041, essv5625169, essv6212945, essv6340227, essv6186497, essv6219633, essv6380921, essv5764143, essv6048076, essv6352497, essv6585844, essv6170415, essv6575974, essv5960900, essv6050228, essv5514672, essv6282573, essv5714643, essv6121739, essv5615288, essv6065794, essv5417190, essv5471341, essv5691585, essv6381229, essv6079598, essv6035565, essv6554211, essv5473177, essv5896858, essv6397075, essv5656665, essv6169109, essv6010278, essv5902614, essv6224093, essv6389883, essv6555281, essv6440917, essv5789259, essv6083557, essv6062695, essv6158895, essv5883107, essv6241461, essv6069290, essv5618209, essv5899730, essv6132766, essv5905686, essv5695277, essv6071739, essv6056724, essv6265062, essv5449425, essv5915063, essv5463941, essv6350101, essv6051708, essv5924090, essv6022093, essv6019039, essv5674599, essv6132612, essv5697227, essv6256129, essv5422981, essv5642273, essv6115255, essv6086780, essv6137519, essv6064412, essv6394348, essv5464004, essv5728652, essv5671468, essv6422417, essv5440828, essv6586550, essv5484491, essv6538417, essv6582077, essv5973835, essv5445681, essv6348663, essv5829170, essv5449324, essv5697536, essv6597950, essv5481304, essv5534962, essv5513720, essv6129998, essv6236817, essv6433508, essv5618707, essv6373742, essv5927921, essv6574525, essv6383793, essv6248934, essv5454888, essv6347870, essv5777859, essv5945501, essv5833419, essv5996214, essv6297610, essv5928198, essv5956016, essv6245311, essv6095991, essv6301350, essv6301206, essv5865417, essv6155046, essv5544681, essv6195559, essv5564383, essv6473749, essv5584126, essv5740695, essv6261428, essv6024905, essv6217246, essv6036584, essv6298853, essv5808656, essv6417664, essv6242413, essv5912431, essv5785946, essv5697892, essv5465751, essv5828450, essv5741501, essv5564883, essv6423168, essv5728234, essv5851301, essv6401574, essv6172036, essv5709292, essv5644211, essv5759467, essv6122033, essv6351802, essv6489813, essv6048580, essv5994473, essv5941539, essv5948057, essv5927126, essv5986490, essv6375108, essv6404891, essv5470955, essv6585466, essv5495425, essv5883559, essv5599385, essv6345723, essv5674885, essv6016914, essv5737268, essv5672627, essv6005127, essv6090001, essv5736446, essv5480442, essv6199577, essv5402814, essv5791455, essv6186953, essv5509529, essv6430479, essv5799531, essv6447664, essv6420032, essv5711019, essv5441377, essv5984725, essv5965676, essv6159334, essv5460034, essv5968445, essv6011972, essv6524606, essv6316860, essv5987005
SamplesHG01441, NA19012, NA11881, NA18621, HG00309, NA12489, NA18616, NA18951, NA18534, HG01353, NA18530, NA18535, NA18630, HG00418, NA12286, HG00328, NA20752, HG00705, HG01173, HG00274, NA12347, HG00565, NA18526, NA20535, HG00155, NA20531, HG00160, HG01079, NA18545, NA19670, NA20759, HG00614, HG00577, NA20808, NA20800, NA18953, NA20529, HG00428, HG00475, HG00542, HG01174, HG01491, NA18573, NA18608, HG00148, HG00553, HG00139, HG00739, HG00122, HG00106, NA12058, NA20539, HG00683, HG00698, NA19834, NA12776, NA18963, NA07051, NA19004, HG00280, HG01134, HG00366, HG00177, NA18965, NA19236, HG00319, NA20803, HG00156, HG01551, NA18943, NA18950, HG00353, NA18949, HG01521, HG00342, HG00592, NA19077, HG00154, NA18559, HG00339, HG01550, HG00158, NA19428, NA20505, NA20585, NA11919, NA12763, NA20533, HG01384, HG00179, NA19059, NA20819, NA20515, HG00583, NA12383, NA18635, NA19057, NA18536, NA12155, NA18576, HG00259, NA18563, NA18618, NA07357, NA18623, NA20757, HG00610, NA20530, NA18617, HG00692, HG01183, NA18991, NA20807, NA19396, NA20754, HG01124, NA18592, NA19397, HG00330, NA18638, NA19398, NA19066, NA11933, NA18959, NA20541, NA18609, HG00178, HG00419, NA18547, HG00258, NA11843, NA12829, HG01113, HG01136, HG00264, NA18593, HG00243, HG00254, NA19663, HG00276, NA12830, NA18634, NA20589, HG00343, HG00584, NA19684, HG00662, NA18539, NA20773, NA12006, NA19055, HG00373, NA19725, HG00267, HG00620, NA19380, NA19395, NA19786, HG01097, NA19785, HG00108, NA12716, NA18620, HG01516, NA18633, HG00653, HG01191, NA20536, HG01066, NA20348, NA20512, HG00732, NA12778, NA18968, HG00263, NA06986, HG01455, NA12275, NA19002, NA18558, NA18941, HG00672, NA19901, HG00273, HG00282, HG01069, HG00249, NA20818, HG00478, NA11892, NA18564, NA18961, NA19347, NA20774, HG00103, HG01351, NA18613, NA20797, HG00513, HG00524, NA20582, HG00329, HG00341, HG00512, NA20766, NA19382, NA18985, HG00236, NA18606, NA19777, HG00120, NA18543, HG01094, NA12891, NA18582, NA18999, NA20525, NA20581, HG01137, NA19921, NA20537, HG00595, NA18552, NA20534, HG01095, NA18983, HG00181, NA19403, NA18565, HG00138, HG00663, NA18989, HG01112, NA19719, NA18544, HG00311, NA19818, HG00608, NA19446, HG00530, NA11830, NA12546, NA19655, HG00422, NA19371, HG00708, HG01251, NA19070, NA18984, NA20792, HG00693, NA11932, NA18611, HG00566, NA11829, HG00251, HG01177, HG00320, HG00690, NA12717, NA20528, NA18549, HG00183, HG00137, NA19079, NA19381, NA20524, NA20804, HG00626, HG00684, HG01110, HG00476, NA20502, NA20517, HG00704, NA18555, HG00278, NA19661, NA19779, NA19065, NA12775, NA19058, HG00361, HG01515, NA12043, NA19445, HG00318, NA12750, NA20522, HG01250, HG01075, NA18561, HG00127, NA18952, NA20516, HG00736, NA20508, NA19003, NA19072, HG00261, HG00707, NA12340
Known GenesGUCY1A2
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2669729
Sample Size1151
Observed Gain0
Observed Loss302
Observed Complex0

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