Variant DetailsVariant: esv2678041 | Internal ID | 9944146 | | Landmark | | | Location Information | | | Cytoband | 8q24.11 | | Allele length | | Assembly | Allele length | | hg38 | 352 | | hg19 | 352 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5457744, essv6411266, essv5941921, essv5721163, essv5639659, essv5435156, essv5857188, essv5715187, essv5518914, essv5565369, essv6036009, essv6588374, essv5431085, essv5647829, essv6075686, essv5912923, essv5857073, essv6083417, essv6339794, essv5694971, essv5761185, essv5690135, essv5407393, essv5494618, essv6078517, essv5640305, essv6041948, essv5443470, essv5777627, essv5925642, essv6002408, essv5480741, essv6080130, essv5624498, essv6457022, essv6322233, essv5764721, essv6203660, essv5407854, essv6520550, essv6137323, essv6139335, essv5714362, essv5553606, essv6557003, essv5866038, essv5841613, essv6079186, essv5746938, essv6268055, essv6008671, essv5424320, essv6139783, essv5727531, essv5663620, essv6570256, essv5826162, essv5529039, essv5892433, essv6230409, essv5895490, essv5752156, essv5542242, essv5649663, essv6460292, essv5730804, essv5923231, essv6222411, essv6577131, essv5443945, essv5439624, essv6329732, essv6164864, essv5713729, essv6117902, essv6071250, essv6166819, essv5899974, essv6461361, essv6410219, essv6124443, essv5478351, essv5408890, essv6327327, essv5646236, essv6467517, essv6299215, essv6547834, essv6068975, essv5748411, essv5703158, essv5941468, essv5801255, essv5396782, essv5521399, essv5637296, essv5406531, essv6370656, essv6088229, essv5820674, essv6194582, essv5461514, essv6312946, essv5963695, essv5932485, essv5570494, essv6066490, essv6506533, essv5967945, essv5963806, essv5684164, essv6539478, essv5721610, essv6160124, essv5780549, essv5472292, essv5553172, essv5408949, essv5567399, essv5615832, essv5843561, essv5947247, essv5448075, essv6072831, essv5962978, essv6308077, essv5959991, essv5458797, essv5993718, essv6263633, essv5601754, essv5570066, essv5628550, essv5654249, essv6285218, essv6406413, essv5397614, essv5758717, essv6227431, essv6449178, essv6083559, essv6542621, essv6297647, essv6153527, essv5958408, essv6412592, essv6387161, essv5571577, essv5529226, essv5667133, essv6218394, essv6031098, essv5838724, essv6176613, essv6374253, essv6232225, essv6406971, essv6272402, essv6167752, essv6154224, essv5411944, essv6167218, essv5467635, essv5631683, essv6285829, essv5907877, essv6070485, essv6138500, essv5428674, essv6370388, essv6327586, essv6219665, essv6326831, essv5735833, essv5794193, essv6492137, essv5496629, essv5925537, essv6280999, essv6307428, essv6164885, essv6351639, essv6337308, essv5421374, essv5560541, essv5962962, essv6212921, essv6040187, essv5544359, essv5957168, essv6316137, essv5757715, essv5688338, essv6403085, essv6575324, essv6198246, essv5454991, essv6328328, essv6265792, essv5965229, essv5969081, essv6482306, essv5527012, essv6395939, essv6593716, essv6365837, essv6075189, essv6144616, essv6453413, essv6478326, essv6074448, essv6268156, essv6397875, essv5835198, essv5863746, essv6202130, essv5764099, essv5894825, essv5874043, essv6077827, essv5923892, essv5946539, essv6386322, essv5959320, essv5676641, essv5856475, essv5641680, essv6256181, essv5827033, essv5521882, essv5853505, essv6549963, essv6505059, essv6029964, essv6268604, essv5548157, essv6039259, essv5940394, essv5937487, essv5863176, essv6587284, essv6067889, essv6009526, essv6060826, essv5827676, essv5449991, essv6470006, essv6174222, essv5940993, essv5545197, essv6328900, essv6056456, essv6288519, essv6527741, essv5835465, essv5959789, essv5846982, essv6426135, essv5454404, essv6108210, essv5458912, essv5833562, essv6321999, essv6302691, essv5949440, essv6013365, essv6288506, essv6365320, essv5641908, essv5945875, essv5734748, essv5821015, essv5434126, essv5965255, essv5452328, essv5560902, essv5554152, essv5552471, essv5906531, essv5717854, essv6064202, essv6062822, essv6389060, essv5650578, essv5647550, essv6336071, essv6022625, essv6401823, essv6242748, essv6041334, essv5626183, essv5471293, essv6320937, essv6249127, essv5632167, essv5550264, essv5454765, essv5827450, essv5944389, essv5982333, essv5809826, essv5840890, essv5739227, essv5918108, essv5692726, essv6378532, essv5713248, essv5631002, essv6184666, essv6036875, essv6512767, essv5655812, essv5656627, essv5640352, essv6127704, essv6484001, essv6587012, essv5969766, essv5925133, essv5575712, essv5697846, essv6566866, essv5557486, essv6387004, essv5958022, essv5728198, essv5597029, essv5658662, essv5875034, essv5834346, essv6344944, essv6101504, essv5485144, essv5914988, essv6177970, essv5667339, essv6028409, essv6550891, essv6023478, essv6022577, essv6022224, essv5440787, essv6436235, essv5763581, essv6162082, essv6243028, essv6549442, essv6402528, essv6157489, essv6013728, essv5519860, essv5952179, essv5432414, essv6014011, essv6390186, essv6174075, essv5854694, essv5980250, essv6054001, essv5498442, essv5477381, essv6227016, essv6496015, essv5552943, essv6387086, essv5398240, essv5458995, essv5543763, essv5548882, essv6403912, essv6203572, essv5958064, essv6292625, essv5707305, essv5798545, essv5398907, essv5446810, essv5791491, essv6005181, essv5955500, essv5902367, essv5600129, essv6230084, essv5563046, essv5765635, essv6097105, essv5466512, essv6182720, essv5584320, essv5845701, essv5898461, essv6128192, essv5761203, essv5551773, essv5826413, essv5719194, essv6181735, essv5905788, essv5892778, essv5582758, essv5449942, essv5627631, essv5587274, essv5724903, essv5530941, essv5400416, essv6315239, essv6402511, essv5600511, essv6272831, essv6161638, essv6569120, essv6163001, essv5842781, essv6537235, essv5621121, essv5720730, essv5856189, essv6058524, essv5724252, essv5872052, essv6175420, essv6108542 | | Samples | HG00345, NA18511, NA18522, NA18549, HG01191, NA18622, NA20509, NA20588, NA19394, NA12383, NA18502, NA19701, NA20761, HG00650, NA12717, NA19058, NA19703, HG01462, HG00608, NA19909, NA18621, NA18947, NA20508, HG00671, NA18861, NA18508, NA10851, HG00559, NA19399, NA12273, NA12843, NA11920, HG00244, NA19350, NA19359, NA12751, NA20294, NA19355, NA18504, NA19377, NA18530, HG00737, HG00449, NA20517, HG01461, NA19443, HG01051, NA19920, NA20771, NA18510, NA18602, HG00337, HG00271, NA19107, NA07346, HG00641, HG00138, NA19373, HG01350, NA19379, NA18519, HG00589, HG00272, NA19319, NA20798, HG01351, HG01177, NA19678, NA18923, HG01492, NA18618, NA19062, NA18916, NA18574, NA11918, HG01083, NA20287, NA19904, NA19384, HG00311, NA20291, NA19130, NA18949, HG00139, NA12275, HG01069, NA19720, HG01080, HG00335, NA18868, NA11932, HG00232, NA19372, NA19238, NA19235, NA19172, NA19722, NA19239, NA18557, HG00326, NA20757, NA20127, HG00323, NA19985, NA20753, HG01124, HG00154, NA20535, NA19908, NA18538, HG00282, NA19070, NA19056, NA19403, HG00245, HG00732, HG00657, NA20810, HG01498, HG00275, NA18579, NA18871, HG01149, NA18948, NA18534, HG00239, NA18907, HG01047, NA20525, NA19654, HG01102, NA19461, NA11919, HG00690, NA11893, HG00331, NA19453, HG01101, HG00140, NA18553, NA19099, HG00152, NA19452, NA19682, NA18523, HG00463, NA19469, NA19318, NA19395, NA19625, NA18858, NA18541, HG01075, NA19012, HG00258, NA19652, NA19440, HG00254, NA19390, NA19256, NA19147, NA18517, NA20276, NA19712, NA18564, NA19072, HG00580, NA12272, NA20520, HG01357, HG01174, NA19835, HG00473, NA20778, NA19470, NA19428, NA19324, NA19311, NA20544, HG01137, NA19083, NA19360, NA19783, NA12763, HG00418, NA18610, HG01489, HG01342, HG00620, HG00339, NA18501, HG00478, NA19223, NA19716, NA19093, NA20289, NA18609, HG00310, NA19102, NA18873, HG00280, NA19116, NA19711, NA19900, NA18989, NA19129, NA19316, NA19312, HG01125, HG00171, NA12890, NA19463, NA18623, NA18612, NA19346, NA18487, HG00581, NA18620, HG01060, NA19700, HG01356, NA20543, NA19055, NA19397, HG00249, NA11995, NA18592, HG01359, NA19914, HG01052, HG00187, NA19332, NA18561, NA19704, NA18507, NA18599, HG01389, HG01374, NA20532, NA18603, NA12045, NA19092, NA18486, HG01465, HG00699, NA19819, NA19393, NA18596, NA18606, HG00177, NA19190, NA18870, NA12155, NA07357, NA19374, NA19396, NA19381, NA18550, HG01366, NA19382, NA18489, NA19762, NA19728, NA19448, HG00702, HG00448, NA20586, NA18982, NA18635, NA19198, HG00330, NA20769, HG00736, NA19197, HG00346, NA12283, NA20540, NA19313, NA12287, NA19138, HG00369, NA18498, NA20513, NA20336, NA19404, HG01134, HG01455, HG01067, NA19383, HG00683, NA18874, HG01170, NA18977, HG01495, NA19917, NA19137, HG01072, NA20340, NA19371, NA18617, NA19385, HG00422, NA19471, HG01440, HG00427, NA19189, NA18520, HG00159, NA18908, HG00419, NA19451, NA18638, NA12748, HG00108, NA19007, HG00543, HG01183, HG01136, NA18544, NA19247, HG00183, HG01187, NA19707, NA18934, HG00596, NA20524, HG01384, NA12342, NA19077, NA12003, HG00428, NA19462, NA20809, HG00701, NA19391, NA19327, NA19236, NA18516, HG00436, NA19982, HG00320, HG00584, HG00533, NA18637, NA19788, NA20126, NA19658, NA18910, NA20770, NA20344, NA19776, HG00708, HG00635, HG01390, HG01073, HG00273, NA19449, HG00373, HG01197, NA18499, NA20538, NA18856, NA18853, NA12827, NA20282, NA19257, NA19225, NA20534, NA18945, NA19436, NA20296, NA19401, HG00124, NA20522, NA18909, NA19834, NA19108, NA18952, HG00366, NA19473, NA18950, HG00375, NA19435, NA19240, HG00278, NA19380, NA07051, NA20785, NA12046, NA19334, HG01494, NA19439, HG00319, NA20516, HG00256, NA20341, NA19818, NA19376, NA19398, HG00707, HG00672, HG00578, NA19248, NA19438, NA19472, NA19060, HG00329, NA12749, HG00656, NA19713, HG01055, HG00174, HG00123, NA19213, HG00343, NA20528, HG00252, HG01377, NA18505, HG01378, NA19755, NA18488, HG01082 | | Known Genes | EXT1 | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2678041
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 423 | | Observed Complex | 0 | | Frequency | n/a |
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