A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677458



Internal ID9596877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47449177..47451950hg38UCSC Ensembl
chr3:47490667..47493440hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382774
hg192774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6380969, essv5723484, essv6422197, essv6127151, essv6119434, essv6480320, essv6503069, essv5922892, essv5869412, essv6037072, essv5899799, essv5704114, essv6108767, essv6395246, essv6588050, essv6204955, essv5612144, essv6429684, essv6559687, essv5796951, essv5721847, essv5996256, essv6133010, essv6118997, essv5745237, essv5877812, essv6154511, essv5455556, essv5805002, essv5552768, essv5917536, essv5952389, essv5939684, essv6116150, essv6000272, essv6196925, essv6013233, essv6588252, essv5584198, essv5497027, essv6515345, essv5993139, essv5730742, essv6278996, essv6122647, essv5825221, essv6092094, essv6056396, essv6284875, essv6498842, essv5641431, essv6326189, essv5402961, essv5880763, essv6187549, essv6316475, essv6265349, essv6401166, essv6401659, essv6149858, essv6074727, essv6373204, essv5945426, essv6349054, essv6118284, essv5400204, essv5758239, essv6154509, essv5785104, essv6490654, essv6060422, essv6509888, essv6225408, essv6405531, essv6429895, essv5662441, essv5952807, essv5901484, essv6209497, essv6029873, essv5693949, essv5557705, essv6088474, essv6504709, essv5506275, essv6298395, essv6188106, essv6544114, essv5785223, essv6501897, essv6301087, essv5995026, essv5889007, essv5915095, essv6093178, essv5710143, essv5900009, essv6158055, essv5611863, essv6025069, essv5957984, essv5514227, essv5485473, essv5530416, essv6478448, essv5612104, essv5914904, essv6466422, essv5622007, essv6035555, essv6233602, essv6241649, essv5505247, essv5894078, essv6104426, essv5954708, essv5988157, essv6337835, essv5413875, essv5451484, essv6111295, essv6342718, essv6297551, essv5901599, essv6353996, essv6302598, essv5431020, essv6264285, essv6386881, essv6173089, essv6585082, essv5451174, essv5814869, essv6414367, essv5800109, essv6139568, essv6264837, essv5712491, essv6583559, essv5803653, essv5962819, essv6039646, essv6228942, essv5423666, essv6326445, essv5483271, essv5773845, essv6297626, essv6315272, essv5764797, essv6037970, essv6252758, essv6083942, essv5809505, essv5590359, essv6065188, essv5477743, essv6134554, essv5990841, essv5459267, essv5615419, essv5960698, essv6333053, essv5465553, essv5833439, essv5789572, essv5696051, essv6201578, essv5677878, essv6384500, essv6001483, essv6156660, essv6412071, essv6449754, essv5418944, essv6356083, essv6245018, essv6011716, essv6438176, essv5504793, essv5396310, essv5688707, essv6091858, essv6099333, essv6445826, essv5536337, essv6561563, essv6028853, essv6083347, essv6347583, essv5530311, essv6230851, essv6189831, essv6038813, essv5435968, essv5972676, essv6244877, essv5680959, essv5598183, essv5622805, essv6397424, essv5823317, essv6049759, essv5458576, essv6588024, essv5845880, essv5633503, essv6119084, essv6210380, essv6103810, essv5719018, essv6328815, essv5748272, essv6102756, essv5833778, essv6271936, essv5860124, essv5489202, essv5681991, essv6207695, essv5860948, essv6171244, essv6010865, essv6307584, essv6270952, essv5596370, essv6450907, essv5895345, essv5864019, essv5844132, essv5397775, essv5927838, essv6448143, essv5709249, essv6095608, essv6452194, essv6190742, essv6547461, essv5653784, essv5662077, essv6299129, essv6030272, essv6085354, essv6225237, essv5617370, essv6098967, essv5780175, essv5514351, essv5779057, essv6203680, essv5879404, essv5805741, essv5538526, essv5960309, essv6149491, essv5458160, essv5657605, essv5734016, essv5727192, essv6226052, essv5697215, essv6058647, essv6236688, essv6234535, essv6270835, essv6540412, essv6049518, essv5893143, essv6276289, essv5821281, essv6307593, essv6443702, essv5882916, essv6282743, essv5957736, essv5493709, essv6322701, essv6438633, essv6548088, essv6202541, essv5848838, essv6052280, essv5830665, essv5395840, essv5848593, essv5914694, essv6442491, essv6509521, essv5792344, essv6475128, essv6402490, essv6054945, essv6102428, essv6361738, essv6347346, essv6313376, essv5551422, essv6587797, essv6301852, essv6153313, essv5535997, essv6090925, essv6339332, essv6288175, essv5946332, essv5846309, essv5928031, essv6404181, essv6205601, essv6520280, essv6457747, essv6102677, essv5732463, essv6015635, essv6580185, essv6183908, essv6497077, essv5902375, essv6559072, essv6171806, essv6267683, essv6537149, essv6375081, essv6040240, essv6400208, essv6226492, essv5499278, essv5475518, essv6038697, essv5941755, essv6539187, essv5405351, essv6585181, essv6422884, essv5451793, essv6543088, essv6008979, essv5605091, essv5660098, essv6590413, essv5569074, essv5426577, essv6408819, essv6434343, essv5852195, essv6563622, essv5968537, essv6166689, essv5969088, essv5766951, essv6334359, essv5966240, essv5647560, essv5890811, essv5858882, essv5890084, essv6443375, essv5940736, essv6539616, essv6012878, essv6022282, essv5786266, essv5621428, essv5469102, essv6040725, essv5885099, essv5849548, essv6023942, essv5909721, essv5749382, essv5681351, essv5432684, essv5501257, essv5893440, essv5937562, essv6550822, essv5900979, essv6190118, essv5904891, essv6169176, essv6051997, essv5810064, essv6132251, essv5928301, essv6132229, essv5570552, essv5899626, essv6076016, essv5408205, essv6344535, essv5632394, essv6425424, essv5667340, essv6388239, essv6433326, essv5739535, essv5632825, essv6559924, essv5583606, essv5426034, essv6383275, essv6324172, essv5477837, essv6454247, essv6271752, essv5778812, essv5530663, essv5631431, essv5426910, essv6187742, essv6410732, essv5869735, essv6489330, essv5838770, essv6100771, essv6036594, essv5925462, essv6438486, essv6157402, essv5645892, essv5418640, essv6233471, essv6513306, essv5565847, essv5821204, essv6142546, essv5728645, essv6511906, essv5966625, essv6299781, essv6323705, essv5485934, essv6269244, essv6251933, essv5902871, essv6037559, essv6255796, essv5642086, essv6523263, essv5783416, essv6513136, essv6204408, essv5510836, essv5603747, essv6229006, essv6249807, essv5767404, essv6013230, essv5514412, essv6598104, essv5822705, essv5755297, essv5825970, essv6561895, essv5685421, essv5427793, essv6072640, essv6357999, essv5879557, essv5660362, essv6151734, essv5920290, essv6573354, essv6348338, essv5724608, essv6022931, essv5491813, essv5912645, essv5623367, essv6512753, essv5990120, essv5884470, essv5910736, essv5704476, essv5978260, essv6286692, essv5512490, essv5972192, essv5670626, essv6330662, essv6467156, essv6211058, essv6193191, essv6496168, essv6293405, essv5561308, essv5921750, essv5575175, essv6508583, essv6328800, essv6364723, essv6035500, essv5546597, essv5829524, essv6497163, essv5646988, essv5627447, essv5514686, essv6498567, essv5660925, essv5590634, essv6214243, essv6293557, essv5813391, essv5451173, essv5730249, essv5647132, essv6452870, essv5574456, essv6365966, essv6163706, essv6396328, essv5780666, essv5706679, essv5415573, essv5842614, essv6354999, essv5959126, essv6395504, essv6154326, essv5501466, essv6211992, essv6309019, essv6587474, essv5987122, essv6442773, essv5468570, essv6170097, essv6347866, essv5638745, essv6595484, essv5905667, essv5529639, essv6038325, essv6312093, essv5773726, essv5651510, essv6431762, essv5960589, essv6352134, essv6253037, essv6063799, essv6345914, essv6523603, essv6338761, essv5917383, essv5498102, essv5424310, essv6061463, essv6497132, essv6352258, essv5936124, essv5964673, essv6564177, essv6530501, essv6296489, essv5601173, essv5731557, essv5451268, essv5407743, essv6415484, essv5842144, essv5702503, essv5861411, essv5915633, essv6369531, essv5961960, essv6199761, essv5792048, essv6366791, essv6146591, essv6030080, essv5885528, essv6014072, essv5590767, essv6157342, essv5609390, essv6304668, essv5564749, essv5986753, essv5802710, essv6234729, essv5959615, essv6264997, essv5461968, essv6217649, essv5910936, essv5978371, essv5603637, essv5559199, essv6248594, essv5412086, essv6306465, essv6584467, essv6493060, essv5727253, essv6393760, essv6306237, essv6525729, essv5859257, essv5667404, essv5642631, essv5774302, essv6469273, essv5840779, essv6295175, essv5814084, essv6288353, essv6485854, essv5651755, essv5463022, essv6230028, essv5946614
SamplesHG01357, HG01441, HG00380, NA19312, HG00257, NA18951, NA18530, NA18535, NA19081, HG00328, HG00705, HG00437, HG00500, HG00112, HG00274, HG00186, NA12347, NA19093, HG00131, NA20544, NA20796, HG00565, NA11918, HG01079, HG01389, HG00463, NA19788, NA19453, NA20800, NA18953, HG01488, NA18517, HG00428, NA18947, HG00542, HG00139, NA18541, NA18546, HG01167, NA12058, NA20805, HG00111, HG00334, HG00581, NA19685, HG00404, HG00335, HG01101, NA19257, NA19236, NA20322, NA18505, NA19472, HG00156, HG00554, HG00158, HG00556, HG01148, NA20505, NA11919, NA12763, HG01384, NA18967, NA19076, HG00593, HG01375, NA19390, HG00421, NA12004, HG01378, NA18635, NA19917, NA20811, NA18622, HG00259, NA19443, NA18623, HG01048, HG00692, HG01183, NA18636, HG01124, NA18592, NA19083, NA19088, NA12273, HG00315, NA12761, NA19908, HG00149, NA18959, HG00533, NA18609, NA11831, NA11894, NA18637, NA19075, HG01253, NA11995, HG00174, HG00634, NA18593, HG00243, HG00276, HG00284, HG01187, NA19457, NA12777, NA19700, HG00343, NA12144, NA19082, HG00662, NA19728, NA12751, NA19000, NA19055, NA20769, HG00373, NA19360, NA19725, HG00267, NA19380, NA19395, NA19080, NA19129, NA19189, NA19771, HG00233, NA19372, HG01516, NA18633, HG00653, HG01191, HG00640, HG00732, NA12778, NA12348, NA19716, NA20790, HG00185, NA19102, HG00263, NA20753, NA19005, NA19002, NA19664, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, NA18961, HG00277, HG00103, HG01351, HG00740, NA20797, HG00524, NA20542, NA19720, HG00534, NA20766, HG00525, NA18910, HG01383, HG00377, NA20813, NA19789, NA19777, NA18940, NA18619, NA12890, NA20525, HG00427, HG01137, NA18597, NA19921, HG01190, NA19729, NA12272, HG01095, NA18909, NA19391, NA19723, NA20276, NA18538, NA12413, NA20518, NA12889, NA19116, NA18631, NA19747, NA18544, NA19755, NA19818, HG00654, HG01390, NA12878, NA18614, HG00530, NA18548, NA20317, NA11830, NA20810, HG00123, HG00144, HG00285, NA18944, NA19225, HG01366, NA18499, NA19732, NA20543, HG00708, NA18610, NA20758, NA12045, NA11932, HG00566, NA11829, NA19130, NA19756, HG01177, NA19346, HG00119, HG01498, HG00690, NA12717, NA19204, HG00473, NA18981, NA20804, NA20806, HG00626, HG01377, NA18615, HG00671, NA19087, HG00702, HG00704, NA18555, NA19385, NA19661, NA19779, HG00126, HG01354, NA18553, HG00312, NA18964, HG01515, NA12718, NA12043, NA19445, NA19625, NA19436, HG00318, HG00536, HG00607, NA11930, NA07037, NA19321, NA20522, NA20809, HG00344, NA20785, HG00100, NA20506, NA19404, NA18952, NA18975, HG01342, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, NA20508, HG00449, NA19060, NA18550, NA18570, HG00707, NA06989, NA12340, NA20775, NA19430, NA19670, NA11931, NA12813, HG00117, HG01492, NA18972, NA20816, NA19010, NA19338, HG00173, HG01491, NA18573, NA18608, NA20786, NA18542, HG00270, HG00553, HG00106, NA20588, HG01204, HG01461, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, NA18965, NA19355, NA19474, NA19084, NA12341, HG01551, NA18873, NA19147, HG00188, NA18626, NA19438, NA19654, NA20586, HG00247, NA18632, NA20770, HG00342, HG00244, HG00635, NA19762, NA20532, HG00543, HG01254, NA18559, NA19726, NA20761, NA19067, NA19428, NA12843, NA18624, HG00179, NA18508, NA19054, NA19059, NA20819, NA12282, NA20515, NA19652, HG00583, NA12383, NA18566, NA11994, NA19660, HG00140, NA12155, NA18960, NA07357, NA20757, HG00372, HG01495, NA20801, HG01047, HG00689, NA20754, HG00628, HG00330, NA18638, NA19398, NA19066, NA11933, NA20541, NA19774, NA20765, HG00178, HG00419, NA18547, HG00258, NA12829, NA18976, NA19835, HG00264, NA19773, HG00637, NA18982, NA19681, NA19056, NA19663, HG00403, NA12830, NA18634, HG00237, HG00584, NA19684, HG00133, NA18539, HG01497, NA12006, NA19676, HG00436, HG00159, HG00620, NA19153, HG00124, NA12046, NA19785, HG00108, NA18620, NA19759, NA12892, HG00268, NA20126, HG00629, NA18498, NA20826, NA18486, HG00559, NA06986, HG01455, NA20334, HG00260, NA20540, HG01073, NA18558, NA18977, NA19098, HG00239, NA18941, HG00282, HG00232, HG01176, HG01356, NA20818, HG00478, NA18487, NA18564, NA18858, HG00116, NA20828, NA19332, NA18613, NA20582, NA18988, HG00329, HG00512, HG01070, NA18562, NA19074, NA19159, HG01060, NA18579, NA18974, NA19462, HG00589, NA18945, HG01149, NA18606, HG00151, NA11832, NA18582, NA18999, HG00590, HG00595, NA20534, NA18983, HG00443, NA18599, NA18907, HG00181, NA18567, NA19078, HG00611, HG01334, NA20799, HG00650, NA06984, NA18565, HG00663, NA12156, HG00262, NA18560, NA18989, HG00580, HG01112, NA19719, NA18971, NA19434, HG00311, HG00448, NA18602, NA18577, NA19649, NA11992, NA19770, NA19749, HG00281, NA19063, NA18917, NA11993, NA12399, NA19717, NA20812, HG00656, NA12842, NA18571, HG00422, HG01251, NA19070, NA19470, HG00367, NA18984, HG01125, HG00251, NA19171, NA20768, HG00324, NA18532, NA18574, HG00442, HG01374, HG01102, HG01489, NA19079, HG00684, NA06994, NA19758, HG00336, HG00476, NA19448, NA20502, NA20517, NA20772, HG00272, NA19092, HG00278, NA20519, NA18519, NA19065, NA07000, NA12775, NA19058, NA18980, HG01067, HG00361, HG01198, NA11881, NA18621, HG00157, NA12489, HG00537, HG00252, NA18605, NA07347, NA18520, NA18616, HG00182, NA19904, NA20527, HG00619, NA18534, HG00418, HG01519, NA19819, NA12342, NA19437, NA19114, HG01173, NA20510, NA18526, HG00155, NA20531, NA10847, NA18545, NA18603, NA20759, HG01197, HG00657, HG00614, HG00368, HG00148, NA12005, NA18489, NA19379, HG00698, NA18963, NA07051, NA19651, HG01134, HG01168, NA19682, NA20798, HG00319, HG00737, HG00253, NA18557, NA18943, NA19761, HG01171, NA18596, NA18628, NA18949, HG00269, HG00592, HG01107, NA19463, HG00242, NA19085, HG00346
Known GenesSCAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677458
Frequency
Sample Size1151
Observed Gain0
Observed Loss613
Observed Complex0
Frequencyn/a


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