A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672886



Internal ID9592305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34654026..34656451hg38UCSC Ensembl
chr20:33241830..33244255hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382426
hg192426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5565722, essv5408387, essv5979504, essv6193909, essv6556525, essv6191716, essv6323110, essv5790702, essv5693877, essv6496723, essv5669699, essv6355512, essv5470393, essv6074164, essv5655321, essv6197120, essv6085007, essv6143485, essv5956355, essv5400971, essv6310711, essv6031310, essv5850573, essv6573722, essv6093589, essv6193798, essv6204241, essv5951710, essv5467716, essv6113925, essv5509757, essv6037975, essv6146571, essv6033787, essv5852877, essv6123406, essv6378635, essv5645548, essv5747530, essv6242645, essv5697222, essv5504075, essv5877832, essv6581171, essv5747666, essv5446286, essv6052508, essv6229049, essv5908515, essv6557735, essv5443635, essv5974175, essv6209161, essv6299603, essv5538839, essv6080193, essv5608248, essv6125585, essv5430824, essv6140185, essv5984468, essv5852607, essv6034471, essv6532132, essv6024607, essv6551458, essv5889923, essv6124235, essv5821559, essv5673909, essv5567558, essv6272968, essv5524925, essv5719284, essv5945846, essv5752000, essv6350731, essv5845112, essv6589760, essv6222799, essv5694649, essv5663906, essv6082201, essv6125406, essv6429956, essv5826583, essv5777379, essv5763916, essv6021379, essv5746221, essv6493372, essv5998376, essv6506641, essv6217169, essv6399763, essv6272399, essv6279435, essv6177407, essv6011063, essv6149369, essv6085318, essv6370748, essv5574171, essv6059422, essv5824045, essv5610331, essv5910952, essv5714989, essv5884091, essv6585727, essv5533405, essv5747188, essv6562582, essv6386949, essv5936396, essv6401331, essv6592314, essv5861223, essv5792251, essv5867216, essv6214477, essv5951401, essv5724346, essv5797881, essv5576964, essv5655044, essv5449816, essv6196260, essv6437505, essv5602365, essv5777343, essv5975794, essv5412835, essv5906378, essv5472088, essv6027089, essv6062884, essv5628624, essv5862933, essv5811306, essv5874067, essv5922317, essv5507030, essv6454365, essv5524525, essv5829242, essv5868904, essv5482712, essv6509783, essv5505637, essv5884154, essv5780570, essv5401175, essv5555741, essv6596181, essv6192985, essv6011806, essv6154371, essv6129020, essv6213419, essv6137734, essv6414890, essv5597784, essv6551180, essv6352259, essv5462187, essv6025539, essv6045746, essv5567651, essv6098530, essv5720436, essv6585331, essv6133682, essv5961915, essv5714572, essv5737936, essv6191186, essv6004244, essv6469655, essv5448741, essv5795484, essv5469591, essv5704135, essv5653499, essv5531388, essv6281748, essv6245853, essv5625558, essv6090060, essv5520276, essv6116686, essv5961470, essv6530046, essv6540918, essv5692740, essv6436991, essv5796678, essv6021888, essv6028074, essv5514210, essv6061592, essv6521051, essv5817971, essv6095592, essv5715789, essv5442983, essv5628958, essv5511614, essv5542453, essv6284043, essv5629529, essv5635599, essv6311254, essv5927658, essv5980596, essv6148847, essv5496217, essv6278912, essv6524372, essv6487254, essv6481770, essv5987752, essv6414628, essv6334924, essv6134022, essv6112115, essv5587582, essv5906594, essv6064352, essv6085165, essv5805582, essv5856835, essv5487564, essv5525970, essv6497167, essv5725185, essv5811897, essv5517515, essv5687835, essv5596079, essv6134639, essv5735804, essv5603146, essv5466168, essv5830173, essv5691116, essv5834536, essv6146757, essv6238008, essv5607136, essv5999183, essv6493509, essv6330886, essv6015316, essv5615551, essv6466269, essv6388638, essv6214310, essv6292204, essv5680507, essv5807003, essv6172304, essv5851663, essv5768087, essv5415652, essv6211082, essv6367498, essv5914032, essv6010658, essv5766456, essv6418185, essv5578109, essv6524544, essv6325776, essv6555142, essv6290547, essv6361773, essv6580483, essv6591827, essv5891316, essv5435786, essv6470035, essv5601996, essv5770939, essv5585964, essv6376388, essv6006484, essv6534535, essv6172942, essv6421939, essv6301506, essv6106521, essv6388127, essv6404789, essv5521509, essv5444521, essv6598023, essv6263070, essv5873451, essv6232563, essv6541170, essv6278206, essv5590624, essv6380542, essv6507364, essv6311832, essv5763732, essv6571727, essv6041277, essv6199163, essv6174680, essv5809951, essv6210079, essv5868224, essv6132652, essv5715422, essv6559163, essv5503867, essv6517284, essv6272123, essv6003887, essv5704186, essv6546043, essv6308979, essv6354187, essv6573730, essv6417975, essv5571377, essv6071533, essv5409845, essv5511797, essv5476272, essv6366285, essv6537062, essv6171665, essv6455638, essv6275450, essv5934930, essv5690151, essv6228633, essv5783454, essv5863299, essv6219040, essv5930533, essv5824839, essv5926617, essv5761552, essv5987651, essv5746222, essv5862581, essv5699875, essv5548114, essv6184137, essv6544239, essv6145777, essv6355151, essv5638293, essv6200782, essv5735645, essv6290574, essv5763617, essv5703894, essv6192600, essv6286614, essv5873418, essv6119639, essv6329502, essv6418814, essv6358933, essv6511979, essv5672425, essv5422405, essv6041356, essv6388660, essv5938897, essv5532328, essv5511265, essv6362007, essv6101041, essv5592421, essv5804103, essv5840902, essv6431907, essv5728144, essv6385071, essv5841374, essv6053810, essv5862947, essv6339117, essv6377300, essv6179617, essv6169064, essv6420018, essv6436036, essv5681383, essv6010992, essv6047154, essv6215933, essv5417234, essv6464684, essv5921474, essv5924131, essv6410065, essv5794062, essv6179344, essv6484082, essv6514587, essv5886730, essv5776006, essv6377522, essv5546807, essv5720607, essv5868345, essv5926373, essv6414539, essv5672298, essv5681664, essv5816266, essv6258226, essv6151676, essv5949956, essv5709639, essv6414605, essv6364249, essv5473200, essv5775175, essv6564443, essv5657414, essv5961498, essv5454949, essv6090417, essv6203952, essv6559336, essv6234734, essv6398274, essv5696925, essv5554290, essv6058223, essv6010625, essv6027301, essv5716322, essv5790913, essv6446902, essv6091984, essv6015614, essv6157767, essv5870978, essv6054385, essv5802331, essv5982257, essv5487468, essv6466767, essv6103240, essv6066592, essv6381735, essv6527187, essv5483584, essv5893326, essv6373598, essv5826788, essv6162099, essv5783793, essv6445545, essv6225990, essv5740609, essv6406993, essv6072402, essv5555442, essv6473555, essv6227108, essv5997390, essv6435564, essv5636980, essv5504887, essv5868247, essv5912828, essv6294169, essv5769806, essv6177019, essv6508053, essv5721433, essv6144724, essv6168314, essv5838050, essv6048474, essv5409896, essv6142837, essv6386089, essv6184801, essv6433280, essv5742010, essv5452403, essv6173113, essv6465888, essv5746428, essv5574903, essv5917761, essv6539390, essv5963298, essv6528264, essv6295847, essv5981756, essv5746789, essv6294471, essv6073592, essv6507761, essv5887649, essv6428422, essv6022009, essv5781617, essv5793442, essv6372410, essv6316254, essv6056139, essv5726527, essv5479130, essv6537061, essv6167282, essv5419103, essv6320610, essv5948336, essv5604165, essv5623144, essv5680661, essv6570260, essv5536230, essv5913218, essv6018197, essv6443748, essv6314332, essv5398104, essv6258418, essv5595788, essv5517310, essv5877472, essv6373978, essv6477390, essv6496171, essv5666930, essv5445746, essv5811433, essv6418114, essv6503599, essv5962072, essv6462237, essv6150973, essv5626086, essv5663096, essv6586214, essv5799251, essv5499723, essv6075927, essv6305866, essv6218930, essv5832902, essv5411890, essv5399896, essv6550914, essv5436150, essv5873000, essv6079157, essv5990283, essv5964957, essv6243327, essv6330475, essv5716097, essv5732607, essv5411491, essv5414016, essv5959241
SamplesHG00613, NA19248, NA19312, HG01440, HG00257, NA12286, NA19081, HG00705, HG00437, HG00500, HG00112, HG00186, HG00131, NA20796, NA19311, NA19469, NA20346, NA19435, HG01079, NA20296, HG00463, NA18516, HG01365, NA19334, NA19788, NA19453, HG01082, NA18953, HG01488, HG00428, HG00148, NA19920, HG01350, NA18541, NA18546, HG01167, NA12058, HG00683, HG00111, HG00581, NA18963, NA19685, HG00404, NA19651, HG00335, NA19682, HG00177, NA19701, NA19236, HG00253, HG00699, NA20322, NA18557, NA19472, NA20755, NA12287, NA20521, HG00156, NA18943, NA18950, NA19761, HG01171, NA18596, NA18628, NA18949, NA18868, HG00269, HG00554, HG00592, HG01107, NA19062, NA19463, HG00158, HG01148, NA20505, HG00242, NA12763, NA19085, HG01384, NA19076, HG00593, HG01375, HG00421, NA12004, HG01378, NA18635, NA19917, NA19675, NA18622, HG00259, NA19443, HG00096, NA19444, HG01061, NA18990, HG00692, HG01183, NA18636, HG01124, NA18592, NA19083, HG00315, NA19429, NA19908, HG00149, NA18959, HG00533, HG00125, HG01360, NA11843, NA19985, NA11894, NA18637, NA19075, HG01253, NA11995, HG00174, NA18593, HG00243, HG00276, HG00284, HG01187, NA19457, NA12777, NA19700, NA12144, NA20341, HG00662, NA19728, NA12751, NA19000, NA19055, HG00373, NA19725, NA19380, HG01437, NA19395, NA19080, NA07346, HG01465, NA19189, NA19771, HG00233, NA19372, HG01191, HG00640, HG00732, NA12778, NA12348, NA19716, NA18986, NA19102, HG00263, NA12275, NA19005, HG00176, NA19002, NA19664, HG00265, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, NA18961, HG00277, HG00103, HG01080, HG01351, HG00524, HG01494, NA19720, HG00534, NA20766, HG00525, NA18910, HG01383, NA20813, NA19789, HG00236, NA19777, NA18940, NA18987, HG00427, HG01137, NA18597, HG01190, NA19376, NA19729, NA12272, NA19723, NA20276, NA12413, NA19009, NA12889, NA18631, NA19431, NA20289, NA19747, NA20287, HG00118, NA18544, NA19755, HG00608, HG00654, HG01390, NA18614, HG00530, NA20810, HG00123, NA12546, HG00142, HG01366, NA18499, NA19732, NA20543, HG00708, HG01108, NA18610, NA12045, NA19315, NA11932, HG00566, NA19130, NA19756, HG00119, HG00320, HG00275, HG00625, HG00690, HG00473, NA19350, NA18908, NA20804, HG00626, HG01377, NA18615, HG00671, NA19087, HG00702, NA19661, NA19779, NA19746, HG01354, HG00327, NA20281, NA19137, NA12827, NA18964, NA12718, NA12043, NA19445, NA19625, HG00734, HG01359, HG01518, NA19436, HG00318, HG00536, HG00607, NA12750, NA07037, NA20809, HG01250, HG00344, HG01072, NA20785, HG01052, HG01075, NA18933, NA19404, HG01342, HG00731, HG00245, HG00596, NA19783, HG00736, NA19060, HG00310, NA19003, NA19072, HG00707, NA20294, NA20802, NA19430, NA20808, HG01492, NA19010, HG00375, NA20342, HG01491, NA20778, NA20786, NA19782, HG00270, HG00553, NA19461, HG00190, HG01182, HG00106, HG00701, NA19834, HG01204, HG01461, NA19648, HG00651, NA19004, NA19678, HG00366, HG00578, NA19108, HG00331, HG00146, NA18965, NA19355, NA19474, NA19084, NA19780, NA12341, HG01551, NA18873, NA19776, NA19654, NA20586, HG01133, HG00256, HG00342, HG00244, HG00635, NA19762, HG00543, HG01254, NA18559, HG00321, HG00339, NA19726, NA19067, NA19428, NA12843, NA20533, NA18624, NA18934, HG00179, HG00250, HG01140, NA19054, HG01456, NA20819, NA12282, HG00472, NA19652, HG00583, NA19057, NA19068, NA19660, HG00140, HG00638, NA18576, NA18960, NA18563, NA18618, NA07357, NA19900, NA20504, NA20757, NA19722, HG00610, HG00372, HG01495, HG01047, NA20754, HG00628, NA19397, NA19398, NA19440, NA19066, NA11933, HG00150, NA19774, NA20765, HG00419, HG00258, NA19256, HG01113, HG01136, NA18973, NA19835, NA20282, NA20336, NA19773, HG00637, NA18982, HG00254, NA19056, NA19663, NA19679, HG00403, HG00357, NA18634, NA20589, NA19684, HG00133, HG00114, HG01497, NA19213, HG00436, HG00159, NA19377, HG00124, NA12046, NA19785, HG00108, NA19172, NA19759, NA19703, HG00268, HG01066, NA19393, NA20126, NA20512, NA19373, HG00629, NA20826, NA18486, HG00559, NA06986, HG01455, NA20334, NA19657, HG00560, NA19713, NA19731, HG01073, NA18558, NA18941, NA19901, HG00273, HG00232, HG01176, NA18487, NA20828, NA19332, NA19909, NA18613, HG00513, NA20582, NA18988, HG00512, HG01070, NA19707, HG00246, NA19074, NA19382, NA18579, NA19318, NA18974, NA18985, NA19462, HG00589, NA18945, HG01149, NA18606, NA18543, HG00151, NA11832, NA18999, NA20581, HG00590, HG00595, NA18552, HG00443, NA18567, NA19078, HG00611, NA12749, NA20332, NA20799, HG00650, NA06984, NA19394, NA18565, HG00138, HG00663, NA12156, NA18560, NA18989, HG00580, NA19719, NA18971, NA19434, HG00448, NA19446, NA19452, NA20507, NA11992, NA12003, NA19064, NA19770, NA19749, NA19063, NA18917, NA11993, NA19717, NA12842, NA19916, HG01251, NA19470, HG00367, NA18984, HG00693, NA18611, HG01125, HG00251, NA20768, HG00324, HG01102, HG01462, HG01489, NA19079, NA19381, NA19473, NA20524, HG00684, NA06994, NA19758, NA19448, NA20772, NA19468, NA20538, NA19750, NA19065, NA07000, NA12775, NA19058, NA18980, HG00361, NA18621, HG00309, HG00157, NA12489, HG00252, NA07347, NA20787, NA18595, NA18616, NA19904, HG00619, NA18534, HG01353, NA18630, HG00418, NA19819, NA12342, HG01083, NA20510, NA18501, NA20535, HG00155, HG00160, NA10847, NA18545, NA19319, NA20759, HG01197, HG00657, NA19359, HG01051, NA12828, HG01174
Known GenesPIGU
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672886
Frequency
Sample Size1151
Observed Gain0
Observed Loss570
Observed Complex0
Frequencyn/a


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