A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669729



Internal ID9589148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106915512..106918846hg38UCSC Ensembl
chr11:106786238..106789572hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383335
hg193335
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669729
Frequency
Sample Size1151
Observed Gain0
Observed Loss302
Observed Complex0
Frequencyn/a


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