A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657136



Internal ID9576555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63239685..63242475hg38UCSC Ensembl
chr1:63705356..63708146hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382791
hg192791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5821686, essv6061888, essv6178142, essv6423714, essv6512827, essv6253099, essv6315031, essv6050874, essv6078892, essv5655822, essv5413356, essv5429571, essv6489232, essv6460168, essv5926378, essv6238163, essv6439643, essv5881080, essv6156211, essv5727544, essv5604384, essv5893371, essv6249123, essv5909471, essv5456514, essv5920947, essv5442255, essv6344059, essv6503841, essv6576058, essv5828876, essv6029679, essv5537845, essv5520322, essv5787924, essv5723789, essv5764599, essv6031170, essv6263003, essv6318222, essv6499548, essv5784745, essv5720526, essv5962892, essv6431819, essv5575236, essv6353679, essv5807284, essv6289458, essv6045988, essv5398508, essv6093687, essv6588796, essv6570828, essv6179753, essv5451143, essv5989635, essv6105550, essv5774308, essv5802662, essv6319314, essv5440938, essv6572555, essv5980406, essv5631852, essv5438034, essv5761976, essv6243615, essv6562310, essv5417528, essv6455059, essv5674677, essv5635364, essv6218509, essv6477845, essv6379633, essv5718242, essv6360597, essv5466649, essv5557477, essv6214699, essv5934478, essv6231829, essv6413698, essv6448710, essv6288647, essv5870146, essv5871493, essv6123148, essv6411641, essv6471768, essv6139365, essv5840335, essv6177258, essv6594094, essv5973625, essv6326118, essv6477000, essv5919615, essv6361414, essv6237221, essv6310119, essv6338784, essv5898337, essv5731637, essv6560559, essv5658017, essv6333890, essv6177045, essv6323333, essv5907024, essv6470115, essv5551333, essv5959525, essv5413470, essv5973508, essv6406460, essv6258497, essv6234193, essv6192589, essv6125913, essv5869941, essv6176302, essv5919451, essv6456178, essv5865999, essv6151112, essv5638270, essv5528046, essv6001027, essv6429701, essv6152622, essv5848342, essv5444460, essv6024999, essv6560566, essv6259071, essv6542982, essv6141518, essv5750818, essv5639353, essv5446613, essv5689027, essv5587105, essv6187984, essv6021362, essv6346648, essv5883305, essv6274759, essv5606762, essv6394424, essv5913715, essv5944167, essv6351404, essv6336517, essv5587925, essv6026808, essv6153460, essv5810685, essv6238577, essv5648009, essv6209718, essv6595131, essv5641292, essv5873107, essv6329348, essv6565353, essv5916846, essv5539179, essv5893484, essv6206360, essv5532972, essv5987096, essv6146786, essv5814044, essv5917641, essv6077836, essv6592163, essv6379346, essv6344329, essv6252853, essv5505891, essv5525402, essv6282190, essv6299086, essv6472051, essv5499079, essv6206635, essv6273466, essv6298873, essv6578049, essv6294865, essv5976966, essv5450991, essv6404659, essv5415015, essv5663831, essv6082666, essv6375985, essv5408527, essv5469674, essv5489989, essv5594023, essv6580492, essv6496336, essv5609084, essv6149480, essv5962097, essv6396547, essv5494826, essv5797408, essv6015557, essv6400964, essv5523541, essv5955470, essv5972444, essv5652058, essv5439963, essv6304158, essv5678068, essv5705006, essv5863118, essv5963691, essv6339692, essv6283413, essv5921003, essv5735081, essv5823508, essv5674704, essv5468672, essv6292986, essv5596927, essv6068298, essv6109121, essv6426841, essv6549769, essv6239945, essv5700138, essv6084045, essv6593996, essv6071524, essv6145364, essv6298755, essv6191807, essv5809928, essv5841493, essv6497656, essv6001810, essv6362133, essv6583716, essv6226914, essv6348149, essv6385940, essv5673472, essv5723535, essv6466447, essv6002103, essv5735021, essv6184047, essv6426879, essv6224232, essv6044754, essv6158449, essv5689911, essv6357185, essv6530539, essv6088994, essv5882159, essv6124786, essv5794053, essv5805987, essv5504760, essv5886569, essv5891136, essv6378110, essv6501386, essv6036646, essv5575720, essv5577145, essv6007881, essv6592058, essv6082187, essv6225687, essv6078694, essv6423394, essv6590111, essv6295487, essv5645267, essv6544249, essv6169530, essv5585165, essv6493761, essv5876872, essv6302443, essv5425311, essv5617741, essv5690687, essv5453449, essv6501207, essv6241367, essv6520502, essv5867934, essv5591022, essv5794299, essv5834796, essv5873516, essv6127028, essv6221079, essv6399359, essv5635038, essv6118191, essv6223044, essv6117672, essv6350007, essv5858238, essv6067994, essv6263514, essv6152682, essv6386628, essv5806870, essv6325444, essv5734255, essv6136585, essv5633715, essv5998405, essv5448798, essv5730993, essv5560504, essv6242537, essv5757844, essv6123181, essv6327545, essv6352696, essv6447893, essv6541347, essv6000776, essv5498046, essv5693288, essv5701268, essv5722590, essv6081784, essv6459437, essv6233071, essv6326344, essv6458811, essv6462461, essv6217016, essv5491182, essv6302525, essv5401769, essv5503807, essv5960834, essv5977848, essv5423203, essv6349520, essv6502357, essv5451022, essv5795591, essv6126410, essv5420640, essv5550569, essv5559304, essv5910300, essv6206531, essv6329369, essv6172548, essv6558001, essv6185977, essv5594780, essv6160625, essv5718627, essv5524309, essv6296598, essv6454729, essv5846574, essv6067412, essv5559391, essv6023597, essv6595745, essv6302154, essv6502995, essv6530757, essv5774528, essv6129504, essv5596233, essv5894587, essv5551994, essv5675041, essv5855352, essv6176857, essv6405878, essv5996603, essv6152870, essv6435223, essv6057502, essv5547534, essv5416654, essv5636168, essv5680439, essv5560745, essv5879516, essv6312661, essv6406146, essv5452675, essv5638657, essv6481722, essv6506291, essv5786280, essv5998105, essv5423032, essv6499044, essv5950537, essv6305010, essv5839695, essv6371412, essv5549600, essv5662386, essv6451023, essv6531479, essv6178290, essv5525810, essv5756048, essv5415996, essv6399229, essv5713909, essv5820225, essv6536341, essv5404849, essv5526250, essv5565002, essv6512079, essv5857801, essv5641220, essv5442843, essv6348160, essv6374492, essv6265254, essv6294907, essv5642080, essv5429429, essv5681055, essv6161148, essv5504698, essv5510311, essv5761171, essv5481469, essv6188789, essv6399964, essv5431391, essv6389913, essv6539960, essv6121631, essv6207464, essv6280687, essv6287278, essv5905275, essv6217191, essv6273332, essv5611620, essv6346439, essv5677420, essv5707032, essv6024211, essv6047843, essv5621441, essv6189357, essv6317475, essv6143705, essv5713238, essv5803534, essv6484321, essv5794884, essv5729763, essv5874937, essv6257502, essv5853368, essv6060191, essv6205326, essv6280163, essv5585580, essv6393560, essv5773433, essv5754466, essv5697714, essv6521638, essv5929624, essv5902430, essv6150597, essv5850381, essv5545425, essv6058960, essv6102205, essv5467056, essv5485672, essv5714338, essv6066046, essv6162804, essv5493127, essv5522447, essv5545463, essv5627453, essv6055938, essv5400323, essv6136656, essv5972641, essv6331285, essv6102012, essv5795086, essv5803623, essv6055652, essv6045230, essv6144319, essv5750948, essv5543450, essv5668372, essv6219604, essv6011302, essv6305052, essv5445749, essv5549226, essv5904425, essv6225246, essv6384413, essv6028451, essv6548802, essv6290282, essv5684250, essv6132095, essv6221878, essv5698987, essv5606606, essv5933960, essv5615388, essv6122944, essv6316447, essv6529309, essv5750872, essv5418313, essv5946593, essv5785059, essv6074775, essv6064430, essv6467081, essv6249063, essv5450294, essv5496888, essv6059136, essv5676228, essv5745135, essv6154199, essv6431974, essv5679998, essv5700409, essv5653000, essv6326627, essv5845140, essv5632799, essv6245491, essv5655847, essv6475251, essv6025197, essv6137808, essv5542341, essv6020993, essv6102048, essv5589167, essv5879351, essv6171357, essv5832107, essv5719641, essv5730702, essv6078717, essv6379453, essv5838163, essv5676973, essv6556116, essv5560267, essv5931066, essv6487461, essv6534052, essv5605843, essv5579723
SamplesHG01357, HG00613, HG01441, NA19207, NA18870, NA12154, HG01440, NA18951, NA18530, NA18871, NA12286, NA19081, NA18523, NA20752, HG00705, HG00437, HG00500, HG00112, HG00274, HG00186, HG00464, NA12347, NA19093, HG00131, HG00565, NA19435, HG01079, HG01389, NA20296, HG00463, NA18516, HG01365, HG00189, NA19788, HG01082, NA18953, NA18517, HG00428, NA18947, HG00542, HG00139, NA18541, NA19144, NA18546, NA18507, HG00683, NA20805, HG00111, HG00334, HG00581, NA19685, HG00187, HG00404, NA07051, NA19651, HG00280, HG00335, HG01101, NA19257, NA19682, NA19701, NA20798, HG00319, HG00737, HG00253, NA18505, NA18557, NA20755, NA12287, NA20803, NA18943, NA19761, HG00353, NA18596, NA18949, HG00269, HG00554, HG01107, HG01550, HG00556, HG00242, HG01384, NA18967, NA19076, HG01375, HG00421, NA12004, HG01378, NA18536, NA19675, NA18622, HG00259, NA19443, HG00096, NA19471, HG01061, NA20530, NA18990, HG01183, NA18636, NA18592, NA19083, NA19088, HG00315, NA12761, NA18956, NA19429, HG00338, NA18959, HG00533, HG01360, NA11843, NA19985, NA11831, NA12400, NA19075, HG01253, NA11995, NA18916, HG00174, NA18593, HG00243, HG00276, HG00284, HG01187, NA19700, HG00343, NA12144, HG00662, NA12751, NA19190, NA19000, NA19055, NA19360, NA19725, HG00267, HG01437, NA19786, NA19080, HG01097, HG01465, NA19129, NA19771, NA18633, HG01191, NA12778, HG00325, NA12348, NA19716, NA18968, NA19102, NA12275, NA19005, NA18510, NA19119, NA19664, HG00265, HG00501, HG01170, HG01069, HG00249, NA18961, HG00277, HG00103, HG01080, HG00740, NA20797, HG00534, NA20766, HG00525, HG01383, HG00377, HG00120, NA18940, NA19235, NA12891, HG01137, NA18597, NA19921, NA19376, NA19729, NA20756, HG01095, NA18909, NA19723, NA19201, NA20276, NA19009, NA20518, NA19747, NA18544, HG00608, HG00654, HG01390, NA12878, NA11830, NA20810, HG00123, HG00285, NA19225, HG00142, HG01366, NA18499, NA20543, HG00708, NA18610, NA20758, NA12045, NA11829, NA19346, HG00119, HG00320, HG01498, HG00275, HG00625, HG00690, HG00641, NA19204, HG00183, NA18981, NA19350, NA20806, HG00626, HG01377, NA18615, HG00671, HG00704, NA18555, HG00271, NA19661, NA19779, HG00126, HG00531, HG01354, HG00327, HG00323, NA19137, NA12827, NA18964, HG01515, HG00313, NA19152, NA19625, HG00734, NA12249, NA18861, HG00318, HG00536, HG00607, NA12750, NA12748, NA07037, NA20809, HG00344, HG01072, NA20785, HG01052, HG01075, NA18561, HG00127, HG01055, NA18952, NA18975, NA07056, HG01342, HG00245, HG00596, HG00736, NA20508, HG00449, NA19060, NA19003, HG00261, NA18511, HG01098, NA06989, NA12340, NA20775, NA18948, NA19670, NA11931, NA12813, HG00117, HG01492, NA18972, NA20816, NA20529, NA19010, HG00375, HG00173, HG00326, HG01491, NA20778, NA20786, HG00190, HG00122, HG00106, HG00701, NA20588, HG01204, NA12776, HG00651, NA19678, HG00557, HG00578, NA11893, NA19108, HG00331, HG00146, NA18965, NA19084, NA19780, NA12341, HG01551, NA19147, HG00188, NA18626, HG00479, NA19654, NA20586, HG00247, HG01133, HG00256, NA18632, HG00342, HG00266, HG00635, HG00543, NA18559, HG00321, HG00339, NA19726, NA20761, NA19067, NA20585, NA19383, NA12843, NA20533, HG00179, HG00250, NA18508, NA19054, NA19059, NA20819, NA12282, NA19652, HG00583, HG00337, NA19057, NA19660, HG00140, HG00638, NA12155, NA18576, HG00180, NA18563, NA18618, NA07357, NA19900, NA20757, NA19722, HG00610, HG00372, NA20801, HG01047, HG00689, NA20754, NA18856, HG00141, HG00330, NA18638, NA19398, NA19440, NA19066, NA20541, HG00150, HG00419, NA18547, HG00258, NA12829, NA18976, HG01136, HG00264, HG00637, NA18982, NA19681, NA19056, NA19663, NA19679, HG00357, NA18634, NA20589, HG00237, HG00133, NA20773, HG00114, NA12006, NA19676, HG00436, HG00159, HG00620, NA19153, HG00124, HG00108, NA18537, NA18620, NA19759, NA20536, HG00268, HG01066, HG00629, NA18498, NA20826, NA18486, HG00559, NA18522, HG01455, HG00260, NA18502, NA19657, HG00560, NA19713, NA20540, HG01073, NA18977, NA19098, HG00239, NA18941, HG00273, HG00282, HG00232, HG01356, NA18504, NA19704, NA20818, HG00478, NA18487, NA18564, NA18858, HG00116, NA20774, NA20828, NA19332, NA18613, NA20582, NA18988, HG00329, HG00512, HG01070, NA19074, NA19131, NA19159, HG01060, NA19382, NA18579, NA18974, HG00589, NA18945, HG01149, NA18606, NA18543, NA10851, NA18582, NA18999, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, NA18907, NA18567, HG01334, NA12749, NA20799, HG00650, NA06984, NA18565, HG00262, NA18560, HG00580, HG01112, NA19719, NA18971, HG00448, NA19099, NA19446, NA20507, NA20513, NA11992, NA12003, NA19770, NA19749, HG00281, NA19063, NA11993, NA12399, NA19717, NA20812, NA12842, NA19160, NA19916, HG01251, NA19070, HG00367, NA18984, HG00693, NA18611, HG01125, HG00251, NA19171, HG00324, NA20528, NA18532, NA18549, NA18853, HG00442, HG00137, HG01102, HG01462, HG01489, NA20524, NA06994, HG00143, HG00336, HG00476, NA19448, NA20502, NA19200, HG00278, NA19007, NA20519, NA19456, HG00136, NA18519, NA19065, NA12775, HG00361, HG01198, NA19012, NA18621, HG00309, NA12489, HG00252, NA20787, NA19712, NA18520, NA18595, NA18616, NA20771, HG00182, NA20527, HG00619, HG01353, HG00418, NA19819, NA12342, NA19114, HG01173, HG00171, HG01083, NA20510, NA19209, NA18501, NA18526, NA20535, NA20531, HG00160, NA10847, NA18545, NA20759, HG01197, HG00657, NA19359, HG01051, NA12828, HG01174, HG00148, HG01350, NA18489, NA20539, HG00698
Known GenesLINC00466
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657136
Frequency
Sample Size1151
Observed Gain0
Observed Loss582
Observed Complex0
Frequencyn/a


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