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 Variantsessv5687835, essv5514210, essv6555142, essv6214310, essv5721433, essv6551458, essv6418114, essv5974175, essv6234734, essv5908515, essv6541170, essv6546043, essv5716097, essv6562582, essv6279435, essv5737936, essv5766456, essv6366285, essv6585727, essv5862933, essv6388638, essv5840902, essv5509757, essv6540918, essv5587582, essv5499723, essv5735645, essv6527187, essv6428422, essv6242645, essv6145777, essv6355151, essv6090060, essv6210079, essv5873451, essv6376388, essv6420018, essv5401175, essv6311254, essv6245853, essv5990283, essv5604165, essv6330475, essv6064352, essv5763617, essv5720607, essv5926373, essv5454949, essv6339117, essv6129020, essv5874067, essv6551180, essv5922317, essv5914032, essv5769806, essv5576964, essv6281748, essv5720436, essv6364249, essv6290574, essv5680507, essv6559336, essv5524525, essv5891316, essv5961498, essv5956355, essv5852877, essv6493372, essv5693877, essv5626086, essv6134022, essv6598023, essv6284043, essv6143485, essv5532328, essv5517310, essv5417234, essv6373598, essv6232563, essv5520276, essv5870978, essv6329502, essv5964957, essv5629529, essv5625558, essv6101041, essv5893326, essv5783454, essv6367498, essv6406993, essv5780570, essv5681664, essv5472088, essv5975794, essv5826583, essv5917761, essv5838050, essv5699875, essv5830173, essv5521509, essv6514587, essv6437505, essv5607136, essv6056139, essv5740609, essv6091984, essv5886730, essv5982257, essv5790702, essv5628958, essv6148847, essv6435564, essv6470035, essv5863299, essv6464684, essv6052508, essv6352259, essv5829242, essv6106521, essv5811306, essv6095592, essv5504075, essv5948336, essv6585331, essv6521051, essv5444521, essv6103240, essv6015614, essv5747530, essv5945846, essv6151676, essv6228633, essv5567651, essv6429956, essv5479130, essv6596181, essv5951401, essv5448741, essv6080193, essv5709639, essv5542453, essv5868247, essv5735804, essv5775175, essv5761552, essv5415652, essv5926617, essv6041277, essv6539390, essv5411890, essv6497167, essv6263070, essv5884091, essv6294169, essv5596079, essv5635599, essv5984468, essv5503867, essv6530046, essv5821559, essv6272968, essv6174680, essv6466269, essv6417975, essv6308979, essv6027301, essv5548114, essv6507761, essv6167282, essv5636980, essv5496217, essv5884154, essv6414605, essv5856835, essv5533405, essv6075927, essv5936396, essv6573722, essv6316254, essv6532132, essv6225990, essv5934930, essv6171665, essv5728144, essv5673909, essv5524925, essv6045746, essv5811433, essv6320610, essv5517515, essv6534535, essv6168314, essv5692740, essv6370748, essv6085165, essv5792251, essv5610331, essv6199163, essv5732607, essv6173113, essv6125406, essv5980596, essv6350731, essv6146757, essv5655321, essv5962072, essv5987651, essv6377522, essv6217169, essv5691116, essv6085318, essv6286614, essv5452403, essv6573730, essv6179344, essv5714572, essv5466168, essv6272399, essv5487468, essv6537061, essv6462237, essv5861223, essv5615551, essv5411491, essv6381735, essv6278912, essv5697222, essv5482712, essv5862581, essv6325776, essv5536230, essv5747666, essv5531388, essv6209161, essv6544239, essv5655044, essv6310711, essv5653499, essv6399763, essv5430824, essv6388660, essv5601996, essv5462187, essv5409896, essv5770939, essv5507030, essv5446286, essv6477390, essv5850573, essv6484082, essv6388127, essv5961470, essv5746428, essv5703894, essv6294471, essv5790913, essv5719284, essv6436991, essv6184137, essv6172304, essv6116686, essv6295847, essv5799251, essv5927658, essv6421939, essv6290547, essv6018197, essv5841374, essv5793442, essv6066592, essv6517284, essv6330886, essv5906378, essv5887649, essv5873000, essv5657414, essv5663096, essv6414890, essv6021888, essv6119639, essv5777343, essv6157767, essv5554290, essv5796678, essv5419103, essv6443748, essv6556525, essv6564443, essv6524372, essv5672425, essv5862947, essv5834536, essv6496723, essv6528264, essv5781617, essv5578109, essv5436150, essv5585964, essv6031310, essv5999183, essv6048474, essv5924131, essv6112115, essv6311832, essv6272123, essv6278206, essv6197120, essv6124235, essv6085007, essv6142837, essv5742010, essv6508053, essv6481770, essv6301506, essv6011063, essv5877472, essv5567558, essv6172942, essv5912828, essv5824839, essv5826788, essv5435786, essv6404789, essv5400971, essv5951710, essv6041356, essv6292204, essv6355512, essv5852607, essv6446902, essv6149369, essv5672298, essv6496171, essv5805582, essv5623144, essv5704186, essv5746222, essv6093589, essv6215933, essv5746221, essv6140185, essv5807003, essv6305866, essv6098530, essv6414628, essv5794062, essv5906594, essv5868224, essv5546807, essv5981756, essv6193909, essv6090417, essv6454365, essv5645548, essv5913218, essv6436036, essv5467716, essv6589760, essv6487254, essv6222799, essv6191716, essv5768087, essv6503599, essv6372410, essv6054385, essv5555442, essv5694649, essv5851663, essv6465888, essv6137734, essv6123406, essv5817971, essv6258226, essv5574171, essv5476272, essv6073592, essv6334924, essv5398104, essv5538839, essv6537062, essv5746789, essv6133682, essv6386089, essv6445545, essv5930533, essv6559163, essv6509783, essv6177407, essv6386949, essv5868345, essv5470393, essv5565722, essv5910952, essv5483584, essv6071533, essv6010625, essv6358933, essv5663906, essv5628624, essv6323110, essv5574903, essv6580483, essv5868904, essv5449816, essv6024607, essv6192985, essv6179617, essv6004244, essv6377300, essv6204241, essv6010658, essv6354187, essv6169064, essv6219040, essv5763732, essv5504887, essv6015316, essv5408387, essv6184801, essv6258418, essv5597784, essv5716322, essv6214477, essv6385071, essv5442983, essv6218930, essv6469655, essv6380542, essv6162099, essv5409845, essv6473555, essv5979504, essv5777379, essv5525970, essv6037975, essv6006484, essv5555741, essv6507364, essv5873418, essv6238008, essv6079157, essv6227108, essv6557735, essv6524544, essv5877832, essv5811897, essv5638293, essv6047154, essv5603146, essv6433280, essv6592314, essv6061592, essv6058223, essv6011806, essv5725185, essv5832902, essv5921474, essv6034471, essv5412835, essv5867216, essv6192600, essv6193798, essv6570260, essv6243327, essv5602365, essv6021379, essv6229049, essv6418814, essv5571377, essv6362007, essv5724346, essv5505637, essv6314332, essv6466767, essv6203952, essv6027089, essv5824045, essv6213419, essv5681383, essv5669699, essv6493509, essv6506641, essv5487564, essv6022009, essv5804103, essv5696925, essv5816266, essv6146571, essv5680661, essv5511797, essv6455638, essv5473200, essv6511979, essv6150973, essv5414016, essv6299603, essv6053810, essv5987752, essv5959241, essv6373978, essv6028074, essv6191186, essv5889923, essv6134639, essv6414539, essv6010992, essv6581171, essv5422405, essv6033787, essv6025539, essv5949956, essv6431907, essv6418185, essv5997390, essv6003887, essv5690151, essv5715789, essv6113925, essv5809951, essv5747188, essv6550914, essv5802331, essv5399896, essv5715422, essv5714989, essv5938897, essv5590624, essv5511265, essv5511614, essv5963298, essv6074164, essv6059422, essv5845112, essv5443635, essv5763916, essv5797881, essv6401331, essv6132652, essv6082201, essv5469591, essv6144724, essv5783793, essv5608248, essv6591827, essv6378635, essv5592421, essv6398274, essv5445746, essv6072402, essv6200782, essv6361773, essv5998376, essv6196260, essv6586214, essv6177019, essv6062884, essv5704135, essv5666930, essv6211082, essv6410065, essv5776006, essv5795484, essv5752000, essv6154371, essv5961915, essv5726527, essv5595788, essv6571727, essv6275450, essv6125585
SamplesHG00650, NA19058, HG00608, NA18621, HG00142, NA19664, NA12843, HG00257, HG00151, NA18999, HG00233, NA20512, NA12751, NA19684, NA19377, HG01518, HG01461, NA19920, NA12750, NA19067, NA19446, HG00138, HG01350, HG00589, NA19315, NA20589, NA19678, HG01167, NA18558, HG01492, NA18960, NA18618, NA20768, HG01083, HG01365, HG00243, NA19079, NA18949, HG00158, HG00512, NA20759, NA19720, HG00335, NA18868, NA19172, NA18985, NA20757, NA19985, NA19789, NA20755, NA12777, NA20535, NA12489, HG00731, NA19056, NA20521, HG00657, NA20810, NA19717, NA19663, HG00344, NA19081, NA12718, HG00692, NA19064, HG01047, HG01102, NA19084, HG00690, HG00404, HG00331, NA19750, NA19453, NA19009, NA19452, NA19682, HG00463, NA19318, NA12778, NA19395, NA19625, NA18593, HG01107, NA20799, NA19729, HG00611, NA19652, NA19440, NA19256, NA19434, NA18628, HG00580, NA19444, NA19010, HG01174, NA19470, NA19428, NA19083, NA18943, NA20281, NA12763, HG00662, NA18615, HG01342, HG00513, NA19785, NA18631, NA19779, NA19102, NA18873, HG00112, NA19770, NA20826, HG00595, NA18989, HG00628, NA18624, NA19065, NA19429, NA19074, NA18487, HG01437, HG00581, NA19431, NA11832, NA20772, HG00593, HG00626, HG00096, HG00114, NA19648, NA19700, HG00592, NA19055, NA19397, NA11995, NA18592, HG01359, HG01052, NA18980, HG01079, NA11933, NA20813, NA12045, HG00699, NA19819, NA12004, NA12058, NA20808, NA20346, HG00150, NA20507, NA12413, NA12341, NA19068, HG01250, NA19746, NA19660, NA19076, HG00251, NA19728, NA18595, HG00702, NA19723, NA18635, NA19916, HG00736, HG00610, HG01354, NA12287, NA19054, NA20336, HG00590, NA12282, HG00277, NA19651, HG00683, HG00106, HG01170, HG00236, NA19719, NA18560, NA19075, HG01176, NA19087, NA12889, NA19002, NA19725, NA19189, HG00637, NA12828, NA18908, NA18973, HG00530, HG00419, HG00108, HG00543, HG01136, HG00149, HG00560, NA18613, HG00629, NA19657, HG01360, HG00176, NA19707, NA20787, NA20524, HG01384, NA12342, HG00428, NA19462, NA20809, HG00500, NA19788, NA18910, NA19776, NA19000, HG00373, HG01197, NA18499, HG01383, HG01182, NA20282, NA20828, NA19756, NA18576, NA20296, NA19685, HG00119, NA19834, NA19108, NA18543, NA18559, NA12775, NA19749, NA18950, HG00375, NA19732, HG01253, HG00638, HG00607, NA20504, HG01108, HG00256, HG00125, NA20341, NA19759, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, NA20582, NA19472, NA18987, NA12749, NA19713, HG00174, NA19726, NA18552, HG00372, HG00252, HG01377, NA18984, HG00472, NA19004, NA20322, HG01191, HG00437, NA19394, NA19701, NA12842, NA19703, HG01462, NA19909, NA20766, NA12286, HG00671, NA19066, HG00242, HG00559, NA18565, HG01066, HG00315, NA20802, HG00244, NA19350, NA19359, NA20294, NA19355, NA20332, NA18959, NA18616, HG00654, NA19443, HG01051, HG00693, NA18988, HG00663, NA07346, NA18563, NA19373, NA18940, NA19319, NA18597, HG01351, NA18567, NA19062, NA07347, NA19457, NA20287, NA19904, NA19130, NA12275, HG01069, HG01080, HG00148, NA12156, HG00156, NA11932, HG00232, NA19372, HG00534, HG00705, NA19722, HG00160, HG00118, NA18990, NA18557, HG01133, NA20342, HG00253, HG01124, NA19908, HG00443, HG00268, HG01171, HG00245, NA18933, HG00732, HG00583, HG00263, HG00275, NA18579, HG01149, NA18534, NA19654, HG00324, HG00284, NA19461, HG00651, HG00250, NA20581, HG00684, HG00140, HG01497, NA19761, HG00146, NA18963, NA12144, NA19469, HG00246, NA12546, NA18541, HG01075, NA18974, NA12043, NA18953, HG01148, NA19003, HG00258, HG00155, HG00254, HG00265, HG00625, NA20276, NA19747, NA19072, NA12272, HG01551, HG00734, HG01375, NA19835, HG00473, NA20778, NA19679, NA19311, HG01113, HG01137, NA19783, HG00418, NA18610, HG01489, HG00339, NA18501, NA06994, HG00259, HG00342, NA19716, NA19468, NA19474, NA20510, NA18636, NA20289, HG00310, NA20786, NA11843, NA19080, NA19780, NA19900, NA19430, NA11892, NA19312, HG01125, NA19463, NA19063, NA20754, HG00553, HG00403, NA20543, HG00536, HG00249, HG00361, HG00524, NA19332, NA18917, HG00640, HG00367, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA19777, NA19057, NA18596, HG01456, HG00566, NA18606, HG00179, HG00177, NA07357, HG01140, HG00327, NA19381, NA20796, NA19005, HG01366, HG01070, HG00501, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA18982, NA12348, NA11992, NA19771, HG00270, NA19782, NA18964, NA18611, NA19404, HG01455, NA20819, NA06984, HG01495, NA19917, NA19137, HG01072, NA19731, NA18986, HG01440, HG00309, HG00427, NA19901, HG00159, NA19445, NA20533, NA11993, NA18614, NA10847, HG01353, HG00133, HG01183, NA18544, HG01187, NA18934, HG00596, NA20505, NA12003, HG00190, HG00701, NA19236, NA18516, HG00436, HG00320, HG00533, NA18637, NA20126, NA18630, HG00619, HG00708, HG00635, HG01390, HG01073, HG00273, NA19774, NA11894, NA20538, HG00613, HG00525, HG00321, HG00157, NA12827, HG00276, NA18634, NA19675, NA18945, HG01204, NA19436, NA20765, NA18546, HG00124, HG01190, NA18961, HG00366, NA19473, HG00357, NA19435, NA18941, NA20804, NA19773, NA19380, NA20785, NA12046, NA19334, HG01494, NA07037, NA19085, NA06986, HG00269, NA19398, HG00111, NA18971, HG01491, NA19060, HG00421, NA20334, HG01254, HG00123, HG00186, HG00131, NA19213, HG01251, NA19661, HG01378, NA19755, HG01082, NA19758, NA07000, HG00554, NA18622, HG01061, NA18965
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


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