A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662148



Internal ID9928253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69445378..69445691hg38UCSC Ensembl
chr8:70357613..70357926hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5677596, essv5422740, essv6232798, essv5563825, essv6190163, essv6569642, essv5457134, essv6519092, essv6287088, essv6431487, essv5904185, essv5651449, essv6222749, essv6407315, essv5544827, essv6430630, essv6031430, essv5997387, essv5657325, essv6473977, essv6301916, essv5515434, essv6252029, essv6333865, essv6177330, essv6091180, essv6468859, essv5791110, essv5452730, essv6258367, essv5914678, essv5491121, essv5951253, essv5916097, essv6448935, essv6319139, essv6003193, essv6330231, essv6112680, essv6126314, essv6582997, essv6510203, essv6569384, essv5521857, essv6121003, essv6042794, essv5550696, essv5510412, essv6410393, essv6264207, essv6576948, essv6595551, essv6048536, essv5841823, essv6166169, essv6137047, essv5565228, essv5425602, essv6299772, essv6139671, essv6513140, essv6270846, essv6137817, essv6354547, essv5625740, essv6192012, essv5926103, essv5863796, essv5833341, essv6395374, essv5824887, essv6272658, essv5585342, essv5395577, essv6463393, essv6045238, essv5713467, essv6346153, essv5474314, essv6198145, essv6263450, essv5968341, essv6366603, essv6557904, essv5653740, essv6322837, essv5551755, essv5640834, essv5618715, essv6515866, essv6281012, essv5896017, essv5528145, essv5751955, essv6212365, essv6199600, essv5609669, essv5454051, essv6453287, essv5914878, essv5666727, essv6048207, essv6042124, essv6597659, essv6136401, essv5769188, essv5600970, essv5581683, essv6462231, essv6165250, essv5869604, essv5910506, essv5401093, essv5610141, essv6420405, essv6037201, essv6036396, essv5562908, essv6112038, essv5767528, essv6594929, essv6061124, essv5975549, essv6581713, essv6025411, essv5570085, essv6046309, essv5702091, essv5629331, essv5417592, essv5920894, essv5430681, essv6221026, essv6248366, essv5633377, essv5612642, essv5825303, essv6029408, essv6162489, essv5701418, essv5835516, essv5849391, essv6569714, essv6422559, essv6225864, essv5513878, essv5960934, essv6510115, essv5426459, essv5762669, essv6075934, essv6387962, essv6170098, essv5941777, essv6325965, essv5455346, essv5622364, essv6565480, essv6552083, essv6194654, essv6506804, essv6159964, essv6491687, essv6013608, essv5744698, essv5440003, essv5426404, essv6151328, essv5921515, essv5777695, essv5622305, essv6361539, essv6346189, essv5904453, essv6259169, essv5488010, essv6327319, essv6164718, essv6002518, essv6369654, essv6082733, essv5465769, essv6218008, essv6463993, essv6156026, essv6504673, essv6578456, essv5464885, essv5501540, essv5817486, essv5523857, essv6472262, essv5935337, essv5818094, essv5529672, essv5409344, essv5852029, essv6390288, essv6307639, essv6180538, essv6497867, essv5597276, essv6483314, essv5904363, essv5715491, essv5519384, essv6058901, essv5607658, essv5676909, essv6449177, essv6220640, essv6053163, essv6547894, essv5804143, essv6391852, essv5798931, essv6384078, essv6095978, essv6105680, essv6101751, essv6242979, essv6141620, essv6122761, essv6439521, essv6184080, essv6174742, essv5888945, essv5836383, essv5741364, essv5777535, essv6594155, essv6294526, essv6240596, essv5910489, essv6418227, essv5720984, essv6185237, essv6478048, essv6021712, essv5873260, essv5516435, essv6356906, essv5999126, essv6179364, essv5419495, essv6415473, essv6492282, essv6584021, essv6373607, essv6280107, essv5902542, essv5470680, essv6549864, essv6362433, essv6194869, essv5414324, essv6163432, essv5707908, essv5396238, essv6104658, essv6444123, essv6106404, essv5415503, essv6407476, essv6475656, essv5862310, essv5588710, essv6212576, essv6346589, essv5766531, essv5497135, essv5641507, essv5515386, essv5896981, essv6049496, essv5880264, essv5632847, essv6044426, essv6541485, essv6484819, essv6227700, essv5892364, essv5801071, essv5992111, essv5885941, essv6345453, essv5684881, essv5397416, essv5963051, essv6177344, essv5963270, essv5902612, essv5853896, essv6205338, essv5852859, essv6553300, essv6007055, essv5703751, essv5874621, essv5934119, essv6002837, essv5828303, essv6372184, essv6345265, essv5775203, essv6134971, essv6350887, essv6356653, essv6241043, essv5911949, essv5495761, essv5480033, essv6200581, essv6052859, essv6131739, essv6560134, essv6312072, essv6171285, essv6200670, essv6316029, essv5567839, essv5435867, essv6540806, essv6329738, essv6257977, essv5430257, essv5984536, essv6416606, essv6032576, essv5985719, essv6394493, essv5729138, essv6430548, essv5932994, essv6384815, essv5660606, essv6593213, essv5461525, essv6417171, essv5845415, essv6049813, essv6555912, essv6105772, essv5399654, essv6544548, essv6519609, essv6117450, essv6070737, essv6059470, essv6171908, essv5604599, essv5775836, essv5703010, essv5791614, essv5551169, essv6268097, essv6029050, essv6575834, essv6191730, essv6345394, essv5926593, essv6208278, essv5931337, essv5551920, essv5940086, essv5421456, essv5961425, essv5485173, essv6178814, essv5851368, essv5666584, essv5919644, essv6380750, essv5908882, essv5831247, essv6164588, essv5505666, essv5437863, essv5895155, essv6437902, essv5443552, essv6460309, essv5515154, essv6162693, essv5460672, essv6415458, essv6455843, essv6431854, essv5616953, essv5805690, essv5784400, essv5669240, essv6224030, essv5551389, essv5823293, essv6345804, essv6304850, essv6036006, essv6418523, essv5663509, essv5717569, essv6122560, essv5696941, essv5685149, essv6246810, essv5555768, essv5447714, essv6027630, essv5965887, essv6327244, essv5667332, essv5551085, essv5794571, essv5580591, essv6222184, essv5934091, essv6425535, essv6486785, essv5990175, essv5921731, essv5558017, essv5559798, essv6437699, essv5541290, essv6125314, essv6001376, essv6125090, essv5524333, essv5401363, essv5847858, essv6226562, essv5626928, essv6003970, essv5986419, essv5637049, essv5901378, essv5523999, essv6558433, essv5895640, essv6146098, essv5435535, essv6508925, essv5453896, essv6331630, essv5786938, essv6001745, essv6580958, essv5945248, essv6332894, essv5561451, essv5885968, essv6496113, essv6071542, essv5566926, essv5480892, essv6398753, essv5832467, essv5614843, essv6334062, essv6188968, essv6185329, essv5773407, essv5863672, essv5430788, essv6373270, essv5937018, essv5841042, essv6437008, essv6102575, essv6021403, essv5879400, essv6209179, essv6433985, essv6382784, essv6392763, essv5700143, essv5778895, essv6387600, essv6411143, essv6034169, essv5569079, essv6572233, essv5470816, essv6235690, essv5461290, essv6276655, essv6247056, essv5853058, essv6497565, essv6380396, essv6086048, essv5886632, essv6569964, essv5658830, essv6531475, essv5777963, essv5582788, essv5543401, essv5615596, essv6070505, essv6038386, essv5422154, essv6275359, essv6224450, essv5642394, essv6311348, essv5854322, essv6462447, essv6301428, essv5582119, essv5456203, essv5885470, essv5869183, essv6299243, essv5502288, essv6322887, essv5603081, essv6472354, essv5804037, essv5993830, essv5972085, essv5893609, essv5731480, essv6024011, essv5801633, essv6399433, essv6054482, essv6549182, essv6448188, essv5643004, essv5552817, essv6372180, essv6260260, essv5467174, essv6501021, essv6363668, essv6437905, essv6193051, essv5682565, essv6074017, essv5725126, essv6141409, essv6432414, essv5618807, essv5991266, essv6071992, essv5599504, essv5807564, essv5618337, essv5709270, essv5616215, essv6229723, essv5737839, essv5777848, essv5404847, essv6437431, essv6209719, essv6222851, essv5833725, essv5532216, essv5848949, essv5578012, essv5571479, essv5442183, essv5799679, essv5463004, essv6278344, essv5532214, essv6294211, essv6017582, essv6273312, essv6025410, essv5896970, essv6248899, essv5483401, essv5704612, essv5550538, essv5604848, essv5490024, essv6104550, essv5768177, essv5710096, essv5569660, essv6361060, essv5544932, essv5851361, essv6537504, essv6528349, essv6193496, essv6080216, essv6569274, essv5938882, essv6338336, essv5876668, essv6432235, essv6391726, essv5542909, essv6209583, essv5980731, essv6428536, essv6152425, essv6326319, essv6105921, essv5627541, essv5991217, essv6545322, essv6222618, essv6099799, essv5629509, essv5846193, essv5664608, essv5417976, essv6185102, essv5807502, essv5557955, essv5925094, essv6588167, essv6270411, essv5414048, essv5802829, essv5499510, essv6500301, essv6028776, essv5829365, essv6266747, essv6315151, essv6061418, essv6446555, essv6581402, essv6183785, essv6546800, essv5980102, essv5504704, essv5602609, essv6401938, essv6382431, essv6548996, essv6043538, essv5661220, essv6429180, essv5775871, essv5538256, essv6594862, essv5733968
SamplesNA20588, NA18502, HG00650, HG00442, NA20529, HG00608, NA18621, HG00142, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, NA18999, NA20512, NA12751, NA18504, NA19684, NA19377, NA12750, NA20806, NA12813, NA19446, HG00138, NA19379, NA19315, NA20798, NA20589, HG01167, NA20756, NA20795, NA18547, NA18916, NA18574, NA07048, NA11918, NA18582, NA20768, HG01365, NA19384, HG00311, HG00243, NA19079, HG00158, HG00512, HG00281, NA20759, NA19720, HG00335, NA20775, NA20812, NA18868, NA19238, NA19172, NA20757, NA19985, NA18867, NA20515, NA19789, NA20755, NA19921, NA12777, NA20535, NA12489, NA20800, NA19070, NA19056, NA20521, NA20810, NA20760, NA19663, HG00344, NA19081, NA20519, NA18948, HG00692, NA18548, NA18907, NA18537, HG01047, HG01102, HG00690, NA12829, NA11893, HG00331, NA19453, NA06989, NA19009, NA19452, NA19682, NA18523, HG00463, NA19318, NA12778, NA19395, NA19625, NA18593, HG01107, NA20799, HG00611, NA19652, NA19440, HG00336, NA18517, NA19712, NA19434, NA19444, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, NA19083, NA18943, NA19360, NA12763, HG00662, NA18615, NA12347, NA19328, HG00614, HG00478, NA19785, NA19223, NA18609, NA19102, NA18873, NA20826, HG00377, HG00274, NA20503, NA19129, HG00628, NA18612, NA19429, NA19074, NA18487, HG01437, HG00581, NA19431, NA18577, NA11832, NA20772, HG00593, HG00096, HG00114, HG00592, NA19055, NA19397, NA18924, NA19466, NA11995, NA18592, HG01359, NA18980, NA19704, NA18507, NA11933, NA18599, HG01374, NA20813, NA18603, NA12045, HG00699, NA19819, NA12004, NA12058, NA20808, NA20346, NA20507, NA19190, NA19098, NA12400, NA12413, NA12341, NA20537, NA19068, HG01250, NA19076, HG00251, NA18489, NA18595, NA18635, NA20769, NA19131, HG00736, HG00610, HG01354, NA20540, NA19313, NA12287, NA18498, NA20513, NA20336, HG01110, HG00590, NA20541, NA12761, HG01134, NA12282, HG00120, HG00683, HG00106, HG00236, NA18560, NA19075, NA18617, NA19471, NA19087, NA12889, NA19159, NA19002, NA19725, NA19189, NA18520, HG00637, HG00338, NA19209, NA12828, NA18908, NA18973, HG00530, HG00419, NA19451, HG00108, NA20818, HG00543, HG00149, NA19247, NA18613, HG00629, NA19657, HG00183, NA19082, NA20787, NA20524, HG01384, NA19462, NA19347, NA20809, NA20536, NA19391, NA18991, HG00475, NA19982, HG00500, NA18910, NA20770, NA19776, NA19655, NA18499, NA18853, NA20282, NA19225, NA20828, NA19160, NA18536, NA20542, NA18576, NA20526, NA20296, NA19401, HG00476, NA20801, NA11881, NA19108, NA18543, NA18559, NA12775, NA19749, NA07051, HG00607, NA20504, NA19786, HG00319, HG01108, NA20803, HG00125, NA19759, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, NA19438, NA20582, NA19472, NA18987, NA12749, NA12830, NA20807, HG00343, NA18552, HG00252, NA18984, HG00472, NA18505, NA20322, HG00345, HG01191, HG00437, NA19153, NA20509, NA19394, NA12383, NA19701, NA20761, HG00542, NA12717, HG01173, NA12842, NA19703, NA20766, NA20508, NA19066, NA19204, NA18861, NA18508, NA10851, NA12273, NA20783, NA18565, NA20514, HG00315, NA20816, NA20752, NA20802, HG00244, NA19350, NA19359, NA19355, NA12340, NA20332, HG00115, HG00449, NA20517, NA19443, NA20771, NA18510, NA12399, NA18602, HG00693, NA18988, HG00271, NA19107, NA20814, NA07346, NA19373, NA18519, NA19319, NA18597, NA20774, HG01168, NA18923, NA07347, NA19457, NA18571, HG00334, NA20287, NA19904, NA19130, NA11930, NA20539, NA12275, HG01069, NA20518, NA12156, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, NA19235, NA19207, HG00705, HG00160, NA18990, NA18557, HG01048, HG01133, NA18539, NA20753, HG01124, HG00154, HG00443, HG00268, HG01171, HG00282, NA19403, HG00557, NA18933, NA19455, NA20314, HG00556, HG00583, HG00263, HG00275, NA18871, NA18534, HG00740, NA20525, NA19654, NA19461, NA11919, HG00651, HG00250, NA18626, HG00531, NA20581, HG00684, NA18912, HG00140, NA18553, HG01497, NA19099, NA19761, HG00152, HG00146, NA18963, NA12144, NA19469, HG00246, NA18570, NA18858, NA12546, NA18541, NA19012, NA12043, NA18953, NA19375, NA19003, HG00258, NA19390, NA19147, NA20276, NA20815, NA19072, NA12272, HG01551, HG01357, NA20790, NA20530, NA20527, HG01375, NA19835, NA20792, NA20778, NA19324, NA19311, NA20544, NA19783, NA18610, HG00620, HG00339, NA18501, NA06994, HG00259, NA19716, NA19468, NA19474, NA19093, NA20510, NA20289, HG00310, NA20786, NA20758, NA19116, NA19780, NA19711, NA20502, NA19430, NA11892, NA19316, NA19312, HG01125, NA12890, NA12006, NA19463, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, NA19676, HG00403, NA11830, NA20543, HG00536, NA11829, HG00524, NA19332, NA20531, NA20532, NA18917, HG00318, NA18486, NA18545, NA19393, NA20805, NA18596, HG00566, NA18606, NA18870, NA12155, NA07357, HG00327, NA19374, NA19396, NA19381, NA20796, NA19005, NA18944, HG01366, HG01070, NA19382, NA19448, HG00448, NA20586, NA19119, NA18982, NA19198, NA20317, NA12348, NA11992, HG00346, NA12283, NA19771, NA19088, NA19138, HG00369, NA19782, NA18964, NA19404, HG01455, HG01067, NA19383, NA18874, NA20819, NA06984, NA19917, NA19137, NA19731, NA19385, HG00422, NA19317, HG00427, NA20811, NA19901, NA19456, NA19445, NA20533, NA19200, NA11993, HG00260, NA18614, NA10847, HG01353, HG00313, HG00133, HG01183, NA19437, HG01187, NA18934, HG00328, NA20505, NA12003, NA19152, HG00701, NA19236, NA18516, HG00436, HG00320, NA18637, NA20506, NA19658, HG00619, HG00708, NA18566, HG01073, HG00273, NA19114, NA19774, NA19449, NA11894, NA20538, NA18856, NA12827, NA19338, NA19257, NA18634, NA20534, NA19675, NA19436, NA20765, NA18546, HG00124, NA20773, NA20522, NA18542, NA12716, NA18909, HG00285, NA19321, NA19473, NA19435, NA18941, NA20804, NA19773, NA19380, NA19144, NA20785, NA12046, NA19334, NA19467, NA20516, NA20797, NA07037, NA19085, NA06986, HG00269, NA19398, HG00111, NA19060, NA20334, HG01254, HG01055, HG00186, NA19213, NA20528, HG01378, NA19755, NA18488, HG01082, NA18511, NA07000, NA18522, NA18622, NA18562, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662148
Frequency
Sample Size1151
Observed Gain0
Observed Loss644
Observed Complex0
Frequencyn/a


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