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 Variantsessv5975538, essv6306409, essv5562126, essv5788659, essv6008724, essv5933003, essv5782398, essv5816957, essv6349308, essv5718198, essv5700401, essv6108409, essv6445230, essv6025081, essv6072711, essv5433553, essv5769595, essv5934594, essv6203000, essv6219266, essv5853358, essv6165520, essv5613569, essv5675080, essv6189400, essv6523190, essv6536905, essv6406999, essv6504327, essv5744200, essv6541540, essv6058862, essv6598352, essv5428048, essv6337709, essv6149732, essv6142273, essv6295744, essv6450767, essv6306686, essv5934467, essv6095670, essv6339350, essv5812010, essv5984810, essv5837610, essv5577974, essv6206265, essv6300830, essv5472656, essv6414739, essv5568314, essv6376556, essv5679614, essv5796602, essv6267997, essv5584850, essv5845363, essv6399154, essv5545523, essv5605642, essv6352136, essv6486864, essv6345528, essv6398813, essv5782326, essv5964656, essv5760391, essv6428756, essv5413493, essv6325192, essv6379642, essv5708280, essv6261733, essv6416211, essv5839714, essv5441637, essv5491911, essv6088776, essv6122600, essv6099823, essv6176029, essv6382199, essv5406792, essv6307602, essv6052899, essv6186092, essv6572380, essv6324388, essv6412528, essv6428957, essv6492512, essv5796174, essv5425152, essv5627077, essv5628796, essv6509267, essv5439827, essv5552811, essv5647910, essv6577128, essv5417098, essv5638393, essv5995217, essv5466755, essv6279455, essv6148190, essv6067019, essv5791232, essv6524103, essv5964415, essv6534129, essv6133528, essv6523999, essv6407352, essv6408993, essv5520897, essv6302955, essv6293467, essv6085204, essv5641965, essv5664006, essv5992406, essv6263595, essv6467502, essv5659638, essv5752995, essv5424571, essv6154397, essv5745656, essv5709533, essv5981081, essv5898601, essv6543902, essv6325791, essv5451259, essv5570173, essv5887096, essv6358098, essv5528057, essv5853872, essv6420223, essv6340988, essv6022192, essv5951864, essv5460984, essv5997896, essv5600209, essv6569370, essv5970485, essv5441221, essv6553064, essv5601334, essv6060567, essv5719031, essv5560434, essv6196528, essv6291816, essv6249555, essv6458889, essv6545803, essv5673929, essv5693817, essv6045169, essv5655410, essv5740589, essv5952369, essv6100258, essv5563718, essv6531633, essv5472970, essv5945595, essv6215237, essv6538941, essv5538759, essv5964540, essv6583714, essv5911638, essv6215515, essv6280592, essv6355901, essv5810167, essv5878469, essv6573958, essv5649137, essv6041555, essv5942685, essv5490413, essv6045442, essv6166523, essv5449192, essv6124004, essv5513547, essv6131179, essv5620045, essv6306407, essv6378797, essv5834576, essv6065582, essv6057611, essv6187096, essv6536829, essv6026794, essv6219579, essv6335809, essv6096897, essv6490641, essv5541485, essv5869826, essv5956070, essv6036823, essv5775579, essv5813192, essv6315240, essv6526324, essv6067428, essv6145312, essv5521164, essv5548094, essv6368161, essv6587305, essv5930102, essv5944297, essv5978491, essv5778726, essv6092329, essv6002579, essv6142138, essv5843231, essv5983937, essv6067776, essv5501643, essv6387613, essv6334348, essv5732773, essv6538767, essv6413611, essv6327113, essv6443929, essv6510604, essv5679615, essv5879200, essv6252353, essv6344546, essv6530298, essv6577423, essv5859734, essv6353780, essv6388658, essv5412106, essv6067584, essv6135709, essv6387013, essv5663630, essv6170740, essv6356941, essv5812690, essv6438584, essv6552676, essv5435592, essv5517152, essv5576969, essv5714180, essv5791346, essv5895925, essv5978366, essv6130570, essv5416901, essv6503508, essv5519226, essv5403101, essv6551783, essv5726097, essv6003439, essv6295814, essv5659227, essv5798239, essv6201418, essv6393005, essv5864390, essv5824835, essv6296530, essv6528559, essv5544955, essv5776295, essv5864349, essv5838202, essv6472245, essv5525926, essv5921593, essv6232305, essv5643843, essv5815206, essv5842050, essv5954453, essv6471844, essv5686695, essv5748782, essv5892291, essv5933242, essv6093672, essv6262509, essv5571520, essv5743323, essv6083086, essv6135823, essv6055244, essv6153795, essv6172730, essv6378455, essv5779533, essv5588469, essv6293551, essv6592713, essv5877452, essv6114163, essv5503113, essv5526465, essv5943987, essv6270488, essv6403701, essv5539952, essv6375552, essv6250259, essv6312418, essv5963467, essv6565031, essv5495564, essv6266719, essv5665108, essv5434663, essv6198803, essv5596068, essv5652382, essv5802156, essv5852538, essv5885892, essv5924627, essv5978798, essv5410189, essv5858123, essv6202263, essv5671581, essv5690340, essv6480136, essv5832503, essv6376784, essv5891225, essv6245064, essv6561600, essv6223727, essv5850154, essv6218179, essv6336593, essv6550622, essv5504652, essv5938389, essv5907054, essv5509821, essv5595180, essv6263492, essv5403726, essv6363806, essv5461325, essv5762924, essv6182109, essv5470744, essv6151987, essv6210624, essv5532749, essv5748476, essv5911296, essv5971212, essv6030294, essv6175568, essv6395804, essv6334433, essv6411035, essv5684287, essv6196552, essv6371160, essv5608152, essv6551140, essv6570284, essv5418455, essv6365739, essv5480311, essv6008705, essv6487719, essv5656836, essv5984137, essv6061769, essv5464309, essv6452500, essv6597165, essv5662313, essv6313132, essv6038379, essv5439253, essv5606664, essv5734995, essv5882998, essv6392351, essv6420034, essv6517175, essv6542360, essv5947146, essv6423492, essv6588152, essv5488806, essv5864134, essv6278369, essv5917507, essv6160623, essv6290061, essv5925620, essv6306680, essv6529652, essv5721722, essv5821330, essv5870704, essv6485392, essv5438332, essv5711758, essv5620109, essv5941027, essv6169196, essv5914516, essv6482237, essv6582373, essv5618998, essv5947411, essv5802414, essv6476143, essv6107502, essv5921884, essv6007772, essv5929559, essv5505436, essv6389355, essv5573127, essv5708900, essv5967173, essv6044215, essv6579041, essv6002819, essv6334798, essv6315957, essv5606910, essv5478863, essv5690129, essv5913994, essv6016284, essv6294305, essv5443489, essv5709738, essv5744912, essv5765589, essv5846862, essv5411917, essv5696496, essv6159036, essv6419432, essv5609809, essv5637898, essv5465804, essv6274387, essv5744371, essv5682617, essv5698666, essv6349497, essv5691155, essv6288266, essv5457605, essv5982815, essv6134256, essv5745722, essv5869272, essv5432429, essv5635181, essv5828433, essv6361091, essv5970714, essv6213835, essv5792589, essv6508196, essv6569595, essv5743124, essv6104693, essv6181299, essv5410750, essv5681481, essv5967693, essv6288843, essv6560317, essv6097076, essv5413805, essv6418175, essv5613054, essv6520747, essv5729170, essv6028389, essv6155894, essv6320370, essv5623427, essv6123797, essv6237525, essv6108355, essv6030840, essv6533492, essv5728053, essv6209395, essv5436970, essv5617623, essv6267911, essv6351657, essv6123192, essv5624177, essv6415564, essv5662907, essv5747732, essv6535027, essv5733220, essv5812810, essv5423466, essv5482684, essv5519945, essv5882677, essv6011055, essv5813579, essv5444300, essv5529653, essv6093489, essv6522257, essv5667980, essv5964283, essv6398998, essv6522943, essv5553093, essv5418693, essv5553460, essv5819727, essv5834431, essv6302366, essv5817552, essv6151450, essv5699674, essv6133804, essv6494296, essv5859609, essv6570947, essv6334729, essv5803776, essv5660192, essv6312398, essv6352786, essv5398183, essv5451191, essv5921693, essv5549124, essv5771817, essv6335502, essv6369495, essv5655476, essv5690450, essv6319986, essv6392074, essv5779682, essv6144436, essv6545472, essv5771030, essv6203227, essv5813112, essv6261051, essv5884554, essv5929673, essv6239086, essv6033987, essv6418497, essv6529458, essv5890332, essv5959303, essv6020159, essv5755219, essv5795803, essv5817649, essv6479180, essv5783210, essv6125437, essv5911850, essv5827120, essv6375810, essv5660666, essv6293922, essv6486913, essv6146539, essv6549055, essv6395383, essv5625420, essv5445989, essv6533394, essv6512602, essv5941001, essv5997580, essv6415585, essv5659970, essv6295587, essv6420970, essv5554169, essv5924349, essv6158998, essv5830645, essv6131114, essv6228956, essv6542228, essv5458060, essv5769983, essv6261495, essv5512423, essv5908701, essv6179684, essv6161569, essv5639923, essv6577543, essv5734488, essv5973641, essv6432277, essv5966931, essv5397472, essv5854953, essv6104043, essv5475743, essv5606679, essv5937982, essv5940230, essv5596537, essv5664592, essv6343312, essv6416483, essv6442349, essv5417621, essv6155007, essv5649589, essv5445407, essv6188298, essv6327893, essv5861047, essv5878914, essv6155829, essv5509935, essv6416295, essv5479517, essv6567855, essv6194256, essv6561868, essv6401838, essv6235919, essv6163855, essv6509012, essv5987020, essv5950698, essv6293740, essv6194818, essv6349489, essv5613527, essv5624974, essv5873618, essv5998559, essv6535794, essv5963021, essv6308410, essv5966914, essv5603062, essv6542070, essv5484619, essv5562479, essv5620886, essv5744787, essv6353098, essv6542751, essv5520711, essv6528720, essv6050726, essv5968240, essv6040003, essv5903028, essv6258170, essv5454940, essv5981416, essv6009254, essv5411405, essv5747554, essv6088140, essv6223809, essv5586793, essv5977449, essv5477951, essv5701377, essv5510048, essv5859671, essv6432008, essv5629505, essv5425648, essv5436320, essv5527246, essv5506917, essv5619683, essv5411866, essv5937526, essv5799008, essv6001373, essv6245170, essv6332591, essv6180935, essv6471268, essv6513902, essv6520061, essv5532110, essv6583718, essv5666493, essv6389716, essv5968181, essv6068326, essv6536277, essv5469503, essv5747652, essv6514234, essv5747746, essv5990762, essv6438751, essv6135412, essv5713901, essv5999718, essv6413961, essv6287245, essv6078245, essv5915857, essv6074304, essv6146146, essv5671936, essv5573443, essv6524412, essv5543261, essv5679043, essv5668687, essv5817345, essv5812711, essv5946043, essv6530730, essv6301122, essv5973869, essv5423235, essv5698796, essv5440320, essv6064257, essv6106736, essv5476280, essv6151878, essv6504675, essv5956256, essv6137272, essv6370647, essv5799639, essv6064501, essv5984648, essv5472253, essv5778416, essv5576043, essv5770412, essv5766400, essv5999197, essv6059713, essv6209181, essv6148771, essv6253909, essv5942022, essv6491996, essv5674633, essv5644604, essv5896966
SamplesHG01357, HG00613, HG01441, NA19248, NA12154, HG01440, HG00257, NA18951, NA18530, NA12286, NA19081, HG00328, NA20752, HG00705, HG00437, HG00500, HG00112, HG00274, HG00186, HG00464, NA12347, NA19093, HG00131, NA20544, NA20796, NA19311, NA11918, NA20346, HG01079, HG01389, HG01365, HG00189, HG00577, NA19788, NA19331, NA20800, NA18953, HG01488, NA18517, HG00428, HG00542, HG00139, NA12058, HG00683, NA20805, HG00334, HG00581, NA19685, HG00187, HG00404, HG00335, HG01101, NA19257, NA20322, NA20803, HG00156, NA18950, HG00353, HG00554, HG00158, HG00556, HG01148, NA20505, NA11919, HG01384, NA18627, NA19076, HG01375, HG00421, NA19675, HG00259, NA19443, HG01048, NA19107, NA20530, NA18636, HG01124, NA18592, NA19088, NA12273, HG00315, NA12761, NA18956, HG00338, NA18609, NA11843, NA19985, NA11831, NA11894, NA12400, NA18637, NA20520, HG01253, NA18593, HG00243, HG00284, NA12234, HG00343, NA12144, HG00662, NA19324, NA19728, NA19190, NA19000, NA19055, HG00306, NA19725, HG00267, HG01097, NA19189, HG00233, HG01516, NA18633, NA20760, HG00732, NA12778, NA19716, NA12275, NA18510, NA19002, HG01170, HG00249, HG01351, HG00740, HG01494, NA20542, HG00534, NA20766, HG00377, NA19711, NA18940, NA18987, NA12890, HG00427, HG01137, NA19921, HG01190, NA19723, NA19009, NA19116, NA18631, NA20289, NA20287, HG00118, NA19755, NA19818, HG00654, NA11830, NA20810, NA18944, HG00142, HG01366, NA18924, HG00708, NA19198, NA20758, NA12045, NA11932, HG00566, NA11829, HG01177, HG01498, HG00275, HG00625, NA12717, HG00183, NA20804, NA20806, HG00626, HG01377, NA19779, NA18553, HG00327, HG00323, NA12827, NA12043, NA19625, HG00734, HG01359, HG01518, HG00318, HG00536, HG00607, NA12750, NA20514, NA12748, NA11930, NA07037, NA20522, NA20809, HG01250, NA20503, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA18561, NA20506, NA18933, HG00127, HG01055, NA18952, NA18975, NA07056, NA18874, HG01342, NA20516, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, HG00736, NA20508, HG00449, HG00310, NA18550, NA19003, NA19072, HG00261, HG00707, HG01098, NA06989, NA20299, NA12340, NA20294, NA20802, NA20775, NA18948, NA19430, NA19670, NA11931, NA19317, NA12813, HG00117, NA20808, HG01492, NA19451, NA20816, NA20529, NA19010, HG00375, NA20342, HG00173, HG00326, HG01491, NA18573, NA18608, NA20778, NA20786, NA19782, HG00270, HG00553, NA19461, HG00190, HG01182, HG00122, HG00106, HG00701, NA19834, NA20588, HG01188, HG01204, NA12776, HG01461, NA19648, NA20314, NA19004, HG00557, HG00366, HG00578, NA11893, HG00331, HG00146, NA18965, NA19084, NA12341, NA12044, NA19467, NA18873, NA19147, HG00188, NA18626, NA19776, NA19654, NA20586, HG00247, HG01133, HG01521, HG00256, NA20770, HG00342, HG00244, HG00266, HG00635, NA19762, HG00115, HG00543, HG00154, HG01254, NA18559, HG00321, HG00339, NA19726, NA19914, NA20761, NA19067, NA19428, NA20585, NA18912, NA19982, NA12843, NA20533, NA18624, NA18934, HG00179, HG00250, HG01140, NA19054, HG01456, NA20819, NA12282, NA20515, HG00472, NA19652, HG00583, NA12383, NA18566, HG00337, NA11994, NA19057, NA19068, NA19660, HG00140, HG00638, NA12155, NA18576, NA18960, HG00180, NA18563, NA07357, NA20504, NA20757, NA19722, HG00610, HG00231, HG00372, HG01495, NA20801, NA20807, HG00689, NA19396, NA20754, NA18856, HG00141, HG00628, NA19397, HG00330, NA07048, NA11933, NA20541, HG00150, NA19774, NA20765, HG00178, HG00419, HG00258, NA12829, NA18976, HG01113, HG01136, NA18973, NA19835, NA20282, NA20336, HG00264, NA19773, HG00637, NA18982, NA19681, HG00254, NA19663, NA19679, NA12830, HG00357, NA18634, NA20589, HG00237, HG00584, NA19684, HG00133, NA18539, NA20773, HG00114, HG01497, NA12006, NA19213, NA19676, HG00436, HG00159, HG00620, HG00124, NA12046, NA19785, HG00108, NA19759, NA12892, NA18572, NA19703, NA20536, HG00268, HG01066, NA19375, NA20126, NA20512, NA19373, NA18498, NA20826, HG00559, NA06986, HG01455, NA20334, HG00147, NA20344, NA18502, NA19657, HG00560, NA19713, NA19731, NA20540, HG01073, NA18558, NA18977, HG00239, NA18941, NA19901, HG00273, HG00282, HG00232, HG01176, HG01356, NA18504, NA19704, NA20814, NA20818, HG00478, NA18487, NA18564, NA18858, NA18942, HG00116, NA19347, NA20774, NA20828, NA19909, NA18613, HG00513, NA20582, NA18988, HG00153, HG00329, HG00512, HG01070, NA19707, HG00246, NA18562, NA19074, NA19131, HG01060, NA18579, NA18974, HG00589, NA18945, HG00151, NA11832, NA10851, NA20581, NA20537, HG00590, HG00595, NA18552, NA18983, HG00443, NA18599, NA18907, HG00181, NA18567, NA19078, HG01334, NA12749, NA20799, HG00650, NA06984, NA19394, NA19403, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, HG00580, HG01112, NA19719, HG00311, HG00448, NA18602, NA19446, NA20509, NA19452, NA20507, NA20513, NA11992, NA19770, NA19749, HG00281, NA19063, NA18917, NA11993, NA12399, NA19717, NA20812, NA12842, NA19655, NA18571, NA19916, HG01251, NA19070, NA19470, HG00367, HG00693, NA18611, HG01125, HG00251, NA19171, NA20768, HG00324, NA20528, NA18574, NA18853, HG00442, HG01374, HG01522, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, NA20524, HG00684, HG00143, HG01110, NA19758, HG00336, HG00476, NA19448, NA20502, NA20517, NA20772, HG00272, HG00345, NA20538, NA19750, HG00278, NA19007, NA20519, HG00136, NA19065, NA07000, NA12775, NA19058, NA18980, HG01067, NA19439, HG00361, HG01198, NA19012, NA11881, NA18621, HG00309, HG00157, NA12489, HG00252, NA18605, NA07347, NA20787, NA19712, NA18595, NA18616, NA20771, HG00182, NA20527, HG00619, NA18534, HG01353, NA18630, HG00418, HG01519, NA12342, HG01173, NA11920, HG00171, HG01083, NA20510, NA19209, NA18501, NA20535, HG00155, NA20531, HG00160, NA10847, NA18545, NA20759, HG01197, HG00657, NA19359, HG00614, HG01051, NA12828, HG00475, HG01174, HG00368, NA19449, HG00148, HG01350, NA12005, NA20539, HG00698, NA18963, NA07051, NA19651, HG00280, HG01134, HG01168, NA19682, HG00177, NA20798, HG00319, HG00737, HG00253, HG00699, NA18557, NA20755, NA12287, NA20521, NA18943, NA19761, HG01171, NA18596, NA18628, NA20340, HG00269, HG00592, NA12414, NA19077, HG01107, NA19062, HG01550, HG00242, NA19085, HG00346, HG00593, HG01378, NA19917, NA20811, NA18536, NA18622, HG00096, HG01061, NA18617, HG00692, HG01183, NA19908, HG00098, HG00149, HG00125, HG01360, NA19075, NA11995, NA18916, HG00174, HG00276, NA12777, NA19700, NA19082, NA20341, NA12751, NA20769, HG00373, NA19313, NA19380, HG01437, NA19786, NA19080, NA07346, NA12716, HG01465, NA19129, NA19771, NA19374, HG00640, HG00325, NA20790, HG00185, NA20795, NA18968, NA18986, HG00263, NA20753, NA19005, HG00176, NA19119, NA19664, HG00265, HG01069, NA18961, HG00103, HG01080, NA20815, NA20797, NA19720, NA12283, NA19328, HG01383, NA20813, NA19789, NA19777, HG00120, NA19235, NA12891, NA20525, NA18597, NA19729, NA12272, NA20756, HG01095, NA18538, NA12413, NA20518, NA12889, NA19431, NA19747, NA18544, HG00608, HG01390, NA12878, NA18614, HG00123, HG00285, NA12546, NA18499, NA19732, NA20543, HG01108, NA20792, NA19756, HG00320, HG00690, HG00641, HG00473, NA18981, NA18615, HG00671, NA19087, HG00271, HG00126, NA19746, HG00531, HG01354, HG00312, HG01515, NA12718, HG00313, NA19152, HG00152, NA12249
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


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