A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656979



Internal ID9576398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18214146..18214660hg38UCSC Ensembl
chr10:18503075..18503589hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5812690, essv6392351, essv6302955, essv6133804, essv5503113, essv5691155, essv5460984, essv5870704, essv6169196, essv5679615, essv5595180, essv6093672, essv6541540, essv5846862, essv5812711, essv5436970, essv6344546, essv6423492, essv5671936, essv6188298, essv5765589, essv6418497, essv6263595, essv6179684, essv6416295, essv6553064, essv5613527, essv6438751, essv6387613, essv6352786, essv5921593, essv5892291, essv6108409, essv6407352, essv6249555, essv6106736, essv5443489, essv6215237, essv6155007, essv6239086, essv5440320, essv5940230, essv6523999, essv5839714, essv6267911, essv5779682, essv5721722, essv5454940, essv6237525, essv6223727, essv6002819, essv6536905, essv6016284, essv6534129, essv6030840, essv5549124, essv5859734, essv6401838, essv5968240, essv6399154, essv5747554, essv6524103, essv6279455, essv6583714, essv6520061, essv6504675, essv6219579, essv6130570, essv6007772, essv6543902, essv6542360, essv6131179, essv5513547, essv5815206, essv5908701, essv5729170, essv5403726, essv5666493, essv6336593, essv6370647, essv6551783, essv6414739, essv6467502, essv5813192, essv5964283, essv6293551, essv6085204, essv5413493, essv6095670, essv5796174, essv6155829, essv5977449, essv5562126, essv5552811, essv5660192, essv6045169, essv6092329, essv5964415, essv5819727, essv6573958, essv6378455, essv6485392, essv6413611, essv5921884, essv6411035, essv5476280, essv6522257, essv6175568, essv6142273, essv6561868, essv5913994, essv5600209, essv5782326, essv6180935, essv6522943, essv6406999, essv5620886, essv6418175, essv6538767, essv6166523, essv6287245, essv5434663, essv5662907, essv6001373, essv5869272, essv6123192, essv6045442, essv5885892, essv5506917, essv5728053, essv5933242, essv6146539, essv6151450, essv6052899, essv6579041, essv6261051, essv5917507, essv5544955, essv5973641, essv5461325, essv6552676, essv5458060, essv6067019, essv5803776, essv6533492, essv5810167, essv6592713, essv5747746, essv5433553, essv5698796, essv5762924, essv6306409, essv5543261, essv5824835, essv5778726, essv6134256, essv5837610, essv5664006, essv5491911, essv5674633, essv6492512, essv6148771, essv5570173, essv6067776, essv5435592, essv6315240, essv6002579, essv5635181, essv5520897, essv5791232, essv5975538, essv5838202, essv6392074, essv5469503, essv5466755, essv6203000, essv5445407, essv5719031, essv6334433, essv6064257, essv6420223, essv6514234, essv6325791, essv6296530, essv6263492, essv5877452, essv5545523, essv6529652, essv5852538, essv6479180, essv6215515, essv5679043, essv6549055, essv6530298, essv5517152, essv5743323, essv5601334, essv5782398, essv5828433, essv6194256, essv5743124, essv5744912, essv5771817, essv5911296, essv6078245, essv5709738, essv6196528, essv6145312, essv5921693, essv5769983, essv5690129, essv6517175, essv5792589, essv5775579, essv5711758, essv6159036, essv6059713, essv5966914, essv5438332, essv5417098, essv6148190, essv5817649, essv5527246, essv5952369, essv6312418, essv6361091, essv5933003, essv6312398, essv5662313, essv6201418, essv5978798, essv5956070, essv6542228, essv6235919, essv5439827, essv6088140, essv5981081, essv5538759, essv5418693, essv5982815, essv5813112, essv5623427, essv5573127, essv6538941, essv5776295, essv6355901, essv5812810, essv6294305, essv5732773, essv6295744, essv5411405, essv6074304, essv5911638, essv6334348, essv6412528, essv5967173, essv6387013, essv5553093, essv6186092, essv6520747, essv5987020, essv5882677, essv6349308, essv6325192, essv6445230, essv6510604, essv6009254, essv6041555, essv5878469, essv6545803, essv6420034, essv6100258, essv5576969, essv6182109, essv5740589, essv6560317, essv6356941, essv6572380, essv5970714, essv5649589, essv5744200, essv6096897, essv5937526, essv6158998, essv5971212, essv5842050, essv6125437, essv5690340, essv5416901, essv6320370, essv6194818, essv5432429, essv6472245, essv5830645, essv5605642, essv5475743, essv5896966, essv5586793, essv6588152, essv6151987, essv5495564, essv5577974, essv6293740, essv5628796, essv5532110, essv5999197, essv5964540, essv5873618, essv6403701, essv5480311, essv5998559, essv5778416, essv5445989, essv6526324, essv5560434, essv5451259, essv6577543, essv5609809, essv6503508, essv6376556, essv5859609, essv6529458, essv5878914, essv5984137, essv5465804, essv5509935, essv5701377, essv6528720, essv5963467, essv5984810, essv6267997, essv5418455, essv5895925, essv6369495, essv5924349, essv5709533, essv6345528, essv6124004, essv6339350, essv6160623, essv5664592, essv5410189, essv5981416, essv5945595, essv5529653, essv5984648, essv6494296, essv6408993, essv5947411, essv6334729, essv6293922, essv5510048, essv6258170, essv5606664, essv6313132, essv5686695, essv6008705, essv6290061, essv5548094, essv6582373, essv6545472, essv6536829, essv6154397, essv5747652, essv6280592, essv6490641, essv5859671, essv6151878, essv5519226, essv6416211, essv5665108, essv6398998, essv6375552, essv6149732, essv6025081, essv5624974, essv6232305, essv6198803, essv6250259, essv5412106, essv6375810, essv5938389, essv5520711, essv6438584, essv5588469, essv5606679, essv6209181, essv5413805, essv6363806, essv6245170, essv5428048, essv5771030, essv5613569, essv6530730, essv6144436, essv5675080, essv6482237, essv6293467, essv5802414, essv5748782, essv6203227, essv5813579, essv6213835, essv5941001, essv5788659, essv5699674, essv5398183, essv6471844, essv6295814, essv6022192, essv5941027, essv6270488, essv6104693, essv5944297, essv6210624, essv5796602, essv6301122, essv5490413, essv5864349, essv5821330, essv5553460, essv6252353, essv5858123, essv5726097, essv5963021, essv5718198, essv6307602, essv6528559, essv5745722, essv5887096, essv5576043, essv6300830, essv6261495, essv5624177, essv5620109, essv5563718, essv6353780, essv6398813, essv6587305, essv6452500, essv6072711, essv6064501, essv5451191, essv5504652, essv5992406, essv5608152, essv6450767, essv5748476, essv5700401, essv5817345, essv5770412, essv5915857, essv5668687, essv5817552, essv6219266, essv5752995, essv5617623, essv6382199, essv6319986, essv5644604, essv6598352, essv6508196, essv6308410, essv5783210, essv5673929, essv6122600, essv6133528, essv6295587, essv5406792, essv6486913, essv6419432, essv6253909, essv6065582, essv5832503, essv5843231, essv5970485, essv5779533, essv6306407, essv5947146, essv5425648, essv5684287, essv6278369, essv5659227, essv5539952, essv6432008, essv5464309, essv6512602, essv6044215, essv5472656, essv5436320, essv6040003, essv5791346, essv5845363, essv5528057, essv6206265, essv6165520, essv5441637, essv6416483, essv6097076, essv5671581, essv5596068, essv6368161, essv5606910, essv5795803, essv5869826, essv5693817, essv5649137, essv6570284, essv6008724, essv5967693, essv5956256, essv6135709, essv5942685, essv5525926, essv5411917, essv5568314, essv5424571, essv6058862, essv5907054, essv6196552, essv6509012, essv6245064, essv5997896, essv5641965, essv6351657, essv6337709, essv5930102, essv6415585, essv6509267, essv5760391, essv5681481, essv5978491, essv6099823, essv5488806, essv5990762, essv6376784, essv5708280, essv6135412, essv5713901, essv6288843, essv5554169, essv6513902, essv5853358, essv5744787, essv5441221, essv5403101, essv5951864, essv5943987, essv6315957, essv5690450, essv6567855, essv5444300, essv6550622, essv6334798, essv5997580, essv5827120, essv6420970, essv5643843, essv6187096, essv6104043, essv5891225, essv6274387, essv6181299, essv6471268, essv6389716, essv5625420, essv5924627, essv5470744, essv6565031, essv5638393, essv6262509, essv6057611, essv5861047, essv5769595, essv6504327, essv5618998, essv5397472, essv6209395, essv6155894, essv5946043, essv5584850, essv6487719, essv6536277, essv6172730, essv5834431, essv5512423, essv5478863, essv6486864, essv6142138, essv5884554, essv6223809, essv6107502, essv6055244, essv5942022, essv5682617, essv6131114, essv5639923, essv5799008, essv5482684, essv5411866, essv5417621, essv6415564, essv6061769, essv5799639, essv6288266, essv5929559, essv5627077, essv5850154, essv5425152, essv6036823, essv5637898, essv6542070, essv6597165, essv6533394, essv6480136, essv6389355, essv5439253, essv5663630, essv6030294, essv5983937, essv5652382, essv5619683, essv5613054, essv6218179, essv5423235, essv6583718, essv5509821, essv5733220, essv6524412, essv5596537, essv6569595, essv5708900, essv6291816, essv6340988, essv6306680, essv5999718, essv6335809, essv6108355, essv5734488, essv5629505, essv5647910, essv6428957, essv6395383, essv5903028, essv6523190, essv6324388, essv5973869, essv6033987, essv6153795, essv6068326, essv5659970, essv6379642, essv5966931, essv6371160, essv6170740, essv6028389, essv5798239, essv6535794, essv5744371, essv6413961, essv6395804, essv6332591, essv5477951, essv5864390, essv6458889, essv5714180, essv6050726, essv6083086, essv6577128, essv5479517, essv6570947, essv5890332, essv5864134, essv6442349, essv6038379, essv5937982, essv6137272, essv5914516, essv6577423, essv6135823, essv6561600, essv6306686, essv5747732, essv5911850, essv5655410, essv5816957, essv5698666, essv5410750, essv5954453, essv6176029, essv5925620, essv5854953, essv5620045, essv5656836, essv6551140, essv6428756, essv5978366, essv6261733, essv5660666, essv5853872, essv6542751, essv6114163, essv6266719, essv6393005, essv5745656, essv6443929, essv5766400, essv6011055, essv6327893, essv6327113, essv6569370, essv6491996, essv6349489, essv5519945, essv5802156, essv5655476, essv6161569, essv5526465, essv6228956, essv5929673, essv6358098, essv5964656, essv6432277, essv6349497, essv5995217, essv5882998, essv6353098, essv5562479, essv5505436, essv6026794, essv5898601, essv5812010, essv5696496, essv5934594, essv5541485, essv6476143, essv6067584, essv6067428, essv5423466, essv5679614, essv6535027, essv5834576, essv6088776, essv5472970, essv5472253, essv5959303, essv5501643, essv5571520, essv5755219, essv6335502, essv5449192, essv5934467, essv6531633, essv6060567, essv6020159, essv5521164, essv6352136, essv5484619, essv6343312, essv6388658, essv6146146, essv5968181, essv5950698, essv5667980, essv6378797, essv6093489, essv6189400, essv5734995, essv6365739, essv6123797, essv5659638, essv5457605, essv6003439, essv5573443, essv6302366, essv5532749, essv5879200, essv5603062, essv6202263, essv6163855
SamplesNA20588, NA18502, HG00189, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, HG00142, NA19664, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, HG00233, NA20512, NA12751, HG00153, NA18504, NA19684, NA18530, HG01518, HG01461, NA18633, NA12750, NA20806, NA19067, HG00337, NA12813, NA19446, HG00138, NA19171, HG01350, HG00589, HG00122, NA20798, NA20589, HG01177, NA20756, NA20795, NA18558, HG01492, NA18960, NA18916, NA18574, NA07048, NA11918, NA20768, HG01083, HG01365, HG00311, HG00243, NA19079, HG00158, HG00512, HG00281, HG00139, NA20759, NA19720, HG00335, NA20775, HG01519, NA20812, HG00326, NA20757, HG00323, NA19985, HG01550, NA20515, NA19789, NA20755, NA19921, HG00137, NA12777, NA18951, NA18605, NA20535, NA12489, HG00731, NA20800, NA18538, HG00266, NA19070, NA12878, NA20521, HG01095, HG00657, NA20810, NA20760, NA19717, NA19663, HG00344, NA19081, HG01498, NA12718, NA20519, NA18572, NA18948, NA18981, NA12234, HG00692, NA18907, HG01102, NA19084, HG00690, HG00404, NA12829, NA11893, HG00331, NA19750, NA06989, HG01334, NA19009, NA19452, NA19682, NA12778, HG00126, NA19625, NA18593, HG01107, NA20799, NA19729, NA19652, HG00336, NA18517, NA19712, NA18564, NA18628, HG00580, NA19331, NA20520, NA19010, HG01174, HG00098, NA19470, NA19428, HG00116, NA18943, HG00662, NA18615, HG01342, NA12347, NA19328, HG00614, HG00513, HG00478, NA19785, NA18631, NA19779, HG00267, NA18609, NA18873, HG00112, NA19770, NA20826, HG00377, HG00274, NA20503, HG00595, NA19129, HG00628, NA18624, NA19065, NA18612, NA19074, NA18487, HG01437, HG00581, NA19431, NA11832, NA20772, HG00593, HG00626, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, NA19397, NA18924, NA11995, NA18592, HG01359, HG01052, NA18980, HG01079, HG00100, NA18561, NA19704, HG01188, NA11933, NA18599, HG01389, HG01374, HG00306, NA20813, NA12045, HG00699, NA12058, NA20808, NA20346, HG00150, NA20507, NA19190, NA12400, NA12413, NA12341, NA20537, NA19068, HG01250, NA19746, NA19660, NA19076, NA18550, HG00251, NA19728, NA18595, HG00689, HG00173, NA19723, NA19916, HG00330, NA20769, NA19131, NA18942, HG00736, HG00610, HG01354, NA20540, NA19313, NA12287, HG00247, NA19054, NA18498, NA20513, NA19681, NA20336, HG01110, HG00590, NA20541, NA12761, HG01134, NA12282, NA12005, NA19651, HG00120, HG00683, HG00106, HG01170, HG00262, NA19719, NA20340, NA18560, NA19075, NA18617, HG01176, NA19087, NA12889, HG00182, NA19002, NA19725, NA19189, HG00637, HG00338, NA19209, NA12828, HG00178, NA18973, HG00419, NA19451, NA12748, HG00464, HG00108, NA20818, NA19007, HG00543, HG01136, HG00188, HG00149, HG00560, NA18613, NA19657, HG01360, HG00183, HG00176, NA19082, NA19707, NA20787, NA20524, HG01384, NA12342, NA19077, HG00428, NA19347, NA20809, NA20536, HG00475, NA19982, HG00584, HG00500, NA19788, NA18976, NA20770, NA20344, NA19776, NA19000, NA19655, HG00373, HG01197, NA18499, HG01383, NA12892, HG01182, NA18853, NA20282, NA20828, NA19756, HG00141, NA18536, NA20542, NA18576, NA19685, HG00476, NA20801, NA11881, NA19834, NA18952, NA18559, NA12775, NA19749, NA18950, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, HG00607, NA20504, NA19786, HG00319, HG01108, NA20803, HG00256, HG00125, NA20341, NA19818, NA19759, NA19078, HG00707, HG00578, NA19248, HG00312, NA20582, HG00329, NA18987, NA12749, NA19713, HG00174, NA12830, NA20807, NA19726, HG00343, NA18552, HG00372, HG00252, HG01377, HG00472, NA07056, NA19004, NA20322, HG00345, HG01097, HG00437, NA20509, NA19394, NA12383, NA20761, HG00542, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA19909, NA20766, NA12286, NA20508, HG00671, HG00242, NA10851, HG00559, NA12273, NA18565, NA20514, HG01066, HG00315, NA20816, NA20752, NA20802, HG00244, HG00181, NA19359, NA20294, NA12340, HG00737, HG00115, NA18616, HG00449, NA20517, HG00654, NA19443, HG01051, HG00261, NA20771, NA18510, NA12399, NA18602, HG01522, HG00693, NA18988, NA18627, HG00271, NA19107, HG00663, NA20814, NA07346, NA18563, HG00641, NA19373, NA18940, HG00272, NA18597, HG01351, NA20774, HG01168, NA18567, NA19062, NA07347, NA18571, HG00334, NA20287, HG00185, NA11930, NA20539, NA12275, HG01069, HG01080, NA20518, HG00148, NA12156, HG00156, HG00325, NA11932, HG00232, NA12044, NA11994, HG00534, NA19235, HG00705, NA19722, HG00160, HG00118, HG01198, NA18557, HG01048, HG01133, NA20342, HG00253, NA18539, NA20753, HG01124, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19670, NA19403, HG00557, HG00245, NA18933, HG00732, HG00368, NA20314, HG00556, HG00583, HG00263, HG00275, NA18579, NA18534, HG00239, HG00740, NA20525, NA19654, HG00324, HG00284, NA18573, NA19461, NA11919, HG00250, NA18626, HG00531, NA20581, HG00684, NA18912, HG01101, HG00140, NA18553, HG01497, NA19761, HG00152, HG00146, NA18963, NA12144, HG00246, NA18858, NA12546, HG01075, NA19012, NA18974, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, HG00155, HG00254, HG00265, NA19147, HG00625, NA19747, HG00353, NA20815, NA19072, NA12272, HG00734, HG01357, NA20790, NA20530, NA20527, HG01375, NA19835, HG00473, NA20792, NA20778, HG00237, NA19679, NA19324, NA19311, HG01113, NA20544, HG01137, NA19783, HG00418, HG01489, HG00620, HG00339, NA18501, HG00259, HG00342, NA19716, NA19093, NA20510, NA18636, NA20289, HG00310, NA20786, HG00280, NA11843, NA20758, NA19116, NA19080, NA19711, NA18983, NA20502, HG00147, NA19430, HG01125, HG00171, NA18968, NA12890, NA12006, NA20585, NA19063, NA12154, NA20754, HG00553, NA19676, HG01516, NA11830, HG01521, HG01098, HG01356, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, NA19914, HG00187, NA20531, NA18917, HG00640, HG00367, HG00318, HG01465, HG00103, NA18545, NA20805, NA19777, NA19057, NA18596, HG01456, HG00566, HG00179, HG00177, NA12155, NA07357, HG01140, HG00327, NA19374, NA19396, HG00127, NA19381, NA20796, NA19005, NA18944, HG01366, HG01070, NA19762, NA19448, HG01488, HG00448, NA20586, NA19119, NA18982, NA19198, NA12891, NA11992, HG00346, NA12283, NA19771, NA19088, HG00369, HG00270, NA19782, NA18611, HG01455, HG01067, NA18874, NA20819, NA06984, NA18977, HG01495, NA19917, HG01072, NA19731, NA19317, NA18986, HG01440, HG00309, HG00427, NA20811, NA19901, HG00159, NA18975, NA20533, HG00264, NA11993, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, NA18934, HG00596, HG00328, NA20505, NA19152, HG00190, HG00577, NA18956, HG00701, HG01515, HG00436, HG00320, NA18637, NA20506, NA20126, NA18630, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA20299, NA19774, NA19449, NA11894, NA20538, NA18856, NA12249, HG00117, HG00613, HG00321, HG00157, NA12827, NA19257, HG00276, NA18634, NA19675, NA18945, HG01204, NA20765, NA18608, HG00124, NA20773, NA20522, NA12716, HG01190, HG00285, NA18961, HG00366, HG00357, NA18941, NA20804, HG00278, NA19773, NA19380, NA20785, NA12046, HG01494, NA19439, NA19467, NA20516, NA20797, NA07037, NA19085, NA06986, HG00269, HG01491, HG00421, NA20334, HG01254, HG01055, HG00123, HG00186, HG00698, HG00131, NA19213, NA20528, HG01251, HG01378, NA19755, NA19758, NA07000, HG01112, HG00554, HG00180, NA18622, HG01061, NA18562, NA12776, NA18965
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656979
Frequency
Sample Size1151
Observed Gain0
Observed Loss780
Observed Complex0
Frequencyn/a


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