Variant DetailsVariant: esv2671340 | Internal ID | 9937445 | | Landmark | | | Location Information | | | Cytoband | 3p21.31 | | Allele length | | Assembly | Allele length | | hg38 | 326 | | hg19 | 326 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5800964, essv6542987, essv5563056, essv5620244, essv5717374, essv5628184, essv6451118, essv6240798, essv6124164, essv6345271, essv6012224, essv6543557, essv5587571, essv5397166, essv6202065, essv6059532, essv6443837, essv6254396, essv5787188, essv5773797, essv6485698, essv5406497, essv5591506, essv5738770, essv6241734, essv5976383, essv6309718, essv5623376, essv6327176, essv5957363, essv6160526, essv5732682, essv5612878, essv5755615, essv5895079, essv5933670, essv5503222, essv6098370, essv6177488, essv5865692, essv5571008, essv6323806, essv6162563, essv5517318, essv6124202, essv5920211, essv6326865, essv6143154, essv6086504, essv5937765, essv5850286, essv5412018, essv5718459, essv6131768, essv6357882, essv6079325, essv5760956, essv5552977, essv5753509, essv5868895, essv5423251, essv5615972, essv6307825, essv6410443, essv5852076, essv5928750, essv6130710, essv5855302, essv5483706, essv6334139, essv6301294, essv5673385, essv5904686, essv6328579, essv5942778, essv5762717, essv5727190, essv6169308, essv5572344, essv5996040, essv6315267, essv6085108, essv6488217, essv5401131, essv6395294, essv6063200, essv5987525, essv6346737, essv6431412, essv5617874, essv5534329, essv5566234, essv6058995, essv5627841, essv5405670, essv6371664, essv5748362, essv6194656, essv5459725, essv6127391, essv6071344, essv6363626, essv6219057, essv5426124, essv6009111, essv6325614, essv5542753, essv5932391, essv6159060, essv6464290, essv5823671, essv6401626, essv6343528, essv6255994, essv5957439, essv6218000, essv6122876, essv6279104, essv6462950, essv6405801, essv5409626, essv6065700, essv6020540, essv6586380, essv6414066, essv5539786, essv5478115, essv5814914, essv5568962, essv6264665, essv6151289, essv6034746, essv6528258, essv6024549, essv5737416, essv5648113, essv6433531, essv6107888, essv5956409, essv6476655, essv5977468, essv6379847, essv5992684, essv5931532, essv5547664, essv6491688, essv5930538, essv5530051, essv5647635, essv6522835, essv6552424, essv6004918, essv5754508, essv5493588, essv5444238, essv5710666, essv5544990, essv6261889, essv5781841, essv5759102, essv5802740, essv6425475, essv6581422, essv5872093, essv6052168, essv6026873, essv5912292, essv5973689, essv6105077, essv5819466, essv6006192, essv5833772, essv5682198, essv6345042, essv5976785, essv6596351, essv5777991, essv6300248, essv6427178, essv6128140, essv5561054, essv6383004, essv6270792, essv5642572, essv5511295, essv6266826, essv6447088, essv5732695, essv5688060, essv5476592, essv5828048, essv6552078, essv6163773, essv5694061, essv5676127, essv6154722, essv6555926, essv6398352, essv5816167, essv6523563, essv5678284, essv5810337, essv5921890, essv5417622, essv5594688, essv5783297, essv5793056, essv5690494, essv6398039, essv5789790, essv5502732, essv6325236, essv5399327, essv6260131, essv5601385, essv6321288, essv6516758, essv5628696, essv5942530, essv6224206, essv5909159, essv6467338, essv6385709, essv6467802, essv6226856, essv5947726, essv6408047, essv6110255, essv6457576, essv5854984, essv5444273, essv6237232, essv6013726, essv5758069, essv5458803, essv6588231, essv5583477, essv6291231, essv5631261, essv5477126, essv6257151, essv6221943, essv5524385, essv6407247, essv5582573, essv6006563, essv6368809, essv5794738, essv6356226, essv6373902, essv6385798, essv6427621, essv5874945, essv5750464, essv5684948, essv6182447, essv6014350, essv5549236, essv5408016, essv5792681, essv6185482, essv6451872, essv6433718, essv5578588, essv6308814, essv5542032, essv5785274, essv5716213, essv5421983, essv6189000, essv5975393, essv5885011, essv5584155, essv5677951, essv5574342, essv6307950, essv6010215, essv6042339, essv5733296, essv5842979, essv5466348, essv5663925, essv5949027, essv5866631, essv5648394, essv5593515, essv6160017, essv6415380, essv5602893, essv5660515, essv6536932, essv6195456, essv5889069, essv5905158, essv6063365, essv5594606, essv5475808, essv6592461, essv5627758, essv5701702, essv5602438, essv6181729, essv5708444, essv5766835, essv5537282, essv5578140, essv6356765, essv6274976, essv6006829, essv5430254, essv6484820, essv6478893, essv6062885, essv5452474, essv5723757, essv6474301, essv5928082, essv5544634, essv5480732, essv6549487, essv6487838, essv6192364, essv5638007, essv5545288, essv5524116, essv6322565, essv5899036, essv5612713, essv6152740, essv6204434, essv6374900, essv5688408, essv6228902, essv6199346, essv6311589, essv5713573, essv5537376, essv5445103, essv5964547, essv5875441, essv5702667, essv6472403, essv5842056, essv6585837, essv5609930, essv5545027, essv6302076, essv6420014, essv6481405, essv5629460, essv5933183, essv6248678, essv5877584, essv6128388, essv5954709, essv5870425, essv5469564, essv6270805, essv6009772, essv6541369, essv5955740, essv6016219, essv6004872, essv6498935, essv5668783, essv6311900, essv6588634, essv6396065, essv5794963, essv5667441, essv5878161, essv6400664, essv5442405, essv5611985, essv5451319, essv6575964, essv6546143, essv5438100, essv6341706, essv5968822, essv5937307, essv5844454, essv5638586, essv6585408, essv5450721, essv5657500, essv5437123, essv6218647, essv5438904, essv6293303, essv6171451, essv6383618, essv6246392, essv6310433, essv6108305, essv6086860, essv5626929, essv6529408, essv5436699, essv6337432, essv5703431, essv6320542, essv5414209, essv5744129, essv6262128, essv6076664, essv6309381, essv6083454, essv6438458, essv6404397, essv6338143, essv5826489, essv6283910, essv5934917, essv6489040, essv5957056, essv6548288, essv5474182, essv5881981, essv6429429, essv5443956, essv6414053, essv6238833, essv6170987, essv5947823, essv5531265, essv6298298, essv5848608, essv6332934, essv6516743, essv6578704, essv6442253, essv6243851, essv5966029, essv6432307, essv6566259, essv6509630, essv6506011, essv5547093, essv5822568, essv5547873, essv5884339, essv6428363, essv6217135, essv6240437, essv5568089, essv5414687, essv5819656, essv5905724, essv6010770, essv5595731, essv5588984, essv6501791, essv5919226, essv5979533, essv6339355, essv5585702, essv6364242, essv6285138, essv6462287, essv6582648, essv6240754, essv6417131, essv6256957, essv6426101, essv5548790, essv6151378, essv5835833, essv6060735, essv6358730, essv6590193, essv5402620, essv6414279, essv6397054, essv5635246, essv6447552, essv5776523, essv6266776, essv5575497, essv5454819, essv6541713, essv5627593, essv5683528, essv5423084, essv6159097, essv5665737, essv6141880, essv5816464, essv5471822, essv6587292, essv6409475, essv6219503, essv5555509, essv6062860, essv6362876, essv5620629, essv6442139, essv6084464, essv5793925, essv6533417, essv6026055, essv6049699, essv6362725, essv6493964, essv5603260, essv5508294, essv6421935, essv5754839, essv6538352, essv6182309, essv5831084, essv5492050, essv6333075, essv6103549, essv6137266, essv5602574, essv6461884, essv6500789, essv5482356, essv6375883, essv5723933, essv6161572, essv5781195, essv5556465, essv5891215, essv5774885, essv5756693, essv5474523, essv5926060, essv6243303, essv6060203, essv6221080, essv5824375, essv6122303, essv5720717, essv5986395, essv6146839, essv6196276, essv6587378, essv5689162, essv5742472, essv5663691, essv6181213, essv6510223, essv6115666, essv5744154, essv5896277, essv6568258, essv6065013, essv5682425, essv6210009, essv5760563, essv5469304, essv5545432, essv5581418, essv6135234, essv5816841, essv6537015, essv5654952, essv6114573, essv5771569, essv6373068, essv5482816 | | Samples | NA20588, HG00650, NA20529, NA18621, HG00142, NA18947, NA19399, NA12843, NA11920, NA11931, HG00257, HG00151, NA20512, HG00153, NA18504, NA19684, NA19377, NA18530, NA19920, NA12750, HG00337, NA12813, HG00138, NA19171, HG01350, NA19379, HG00589, NA20589, HG01177, NA20756, NA20795, NA18547, HG01492, NA18916, NA18574, NA11918, HG01083, HG01365, HG00537, HG00311, NA19079, HG00158, HG00139, NA19720, HG00335, HG01519, NA18868, NA19172, NA18985, HG00323, HG01550, NA20515, NA19789, NA20755, HG00137, NA12777, NA18951, NA20535, NA12489, HG00731, HG00266, NA12878, HG00657, NA19663, HG00344, HG01498, NA20519, NA18572, NA18981, NA18907, HG01047, HG01102, NA19084, HG00690, NA12829, HG00331, NA18532, HG01334, NA19452, NA18523, HG00463, NA19318, NA12778, NA19625, HG01107, NA18517, NA19712, HG01174, HG00098, NA19428, HG00116, NA19360, NA12763, HG00662, NA19328, HG00513, HG00478, NA19779, NA18609, NA19102, NA18873, HG00274, NA20503, NA18989, HG00628, NA18624, NA19065, HG01437, NA19431, NA18577, HG00096, HG01060, NA19700, NA19055, NA19397, NA18924, NA11995, HG01359, HG01052, NA18980, HG01079, NA18561, NA19704, NA18507, NA18599, HG01389, HG01374, HG00306, NA20813, NA12045, HG00699, NA19819, NA12004, NA12058, HG00150, NA20507, NA19098, NA12413, NA20537, HG01250, NA19660, NA19076, NA18550, HG00251, NA18489, NA18595, HG00702, HG00330, NA20769, HG00634, NA19131, NA18942, HG01354, NA20540, NA12287, NA19054, NA18498, NA20513, HG01110, HG00590, NA20541, NA12761, HG00277, HG00106, HG01170, HG00236, NA19719, NA19371, NA18560, HG01176, NA19087, NA19159, HG00182, NA19189, NA18520, HG00338, NA19209, NA12828, HG00178, HG00530, NA18638, NA12748, HG00108, NA19007, HG00543, HG01136, NA18613, HG00629, NA19657, HG01360, NA20787, NA20524, HG01384, NA12342, NA19077, HG00428, NA19347, NA20809, NA20536, NA19391, NA19327, HG00475, HG00584, HG00500, NA19788, NA18910, NA18976, NA19776, NA19655, HG00373, NA18499, NA12892, NA19225, NA20828, HG00141, NA19160, NA18536, NA20542, NA20296, NA19401, NA20801, NA11881, NA19834, NA19108, NA18952, NA18543, NA18559, HG00375, HG00136, HG00638, NA07051, HG00607, NA20504, NA19786, HG00319, HG01108, NA20803, HG00256, HG00125, NA19759, NA19376, HG00672, HG00312, NA19472, HG00329, NA12749, NA12830, NA19726, NA18972, HG00343, NA18552, HG00372, HG00252, HG01377, HG00472, NA07056, NA18505, NA20322, HG00345, HG00437, NA19153, NA20509, NA19394, NA12717, HG01173, NA12842, HG00143, HG01462, NA20766, NA12286, HG00242, NA19204, NA18861, NA18508, NA10851, HG01066, HG00315, NA20816, HG00244, NA19359, NA19355, HG00737, HG00115, NA20517, HG00654, NA19443, HG01051, HG00261, NA18510, NA18602, HG00693, HG00271, NA19107, HG00641, NA19373, NA18940, NA18519, HG00272, NA19319, NA18597, HG01351, HG01168, NA18923, NA07347, NA19457, NA18571, HG00334, NA20287, HG00185, NA19904, NA11930, NA20539, HG01069, HG01080, NA20518, HG00148, NA12156, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, HG00534, NA19207, HG00705, HG00160, HG01133, HG00253, NA20753, HG01124, HG00154, HG01171, HG00380, HG00282, NA19670, NA19403, HG00245, NA18933, HG00556, HG00583, HG00263, HG00275, NA18579, NA18871, HG00551, HG00239, HG00740, NA20525, NA19654, HG00324, HG00284, NA18573, NA19461, NA11919, HG00651, HG00250, HG00684, NA18912, HG01101, HG00140, HG01497, NA19099, HG00146, HG00704, NA12144, NA19469, HG00246, NA18570, NA18858, NA12546, HG01075, NA18974, NA18953, NA19375, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA19147, HG00625, HG00353, NA20815, NA19072, NA12272, HG01357, NA20530, NA20527, HG01375, NA19835, NA20778, HG00237, NA19324, NA19311, NA20544, HG00620, NA18501, NA06994, HG00259, HG00342, NA19716, NA19093, NA18636, HG00310, NA20786, HG00280, NA19116, NA19711, NA20502, HG01111, NA19312, HG01125, NA18968, NA12890, NA12006, NA19463, NA18623, NA20585, NA12154, NA19676, NA18620, NA11830, HG01521, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, NA19914, HG00187, NA20531, HG00640, HG00318, NA18486, NA18545, NA19393, NA19057, HG01456, HG00179, HG00177, NA18870, NA12155, NA07357, HG00327, NA18967, NA19374, NA19396, NA19381, NA19005, NA18944, HG01366, HG01070, NA19201, NA19762, HG01488, HG00448, NA20586, NA19119, NA12891, NA11992, HG00346, NA12283, NA19771, NA19138, HG00369, NA18964, NA18611, NA19404, HG01067, NA19383, NA18874, NA20819, NA19917, NA19137, HG01072, NA19385, HG00422, HG01440, HG00309, HG00427, NA20811, HG00159, NA18975, NA20533, NA19200, HG00264, NA11993, HG00260, NA18614, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, NA19437, HG01187, NA18934, NA20505, NA19152, HG00577, HG01515, NA19236, NA18516, HG00436, HG00320, HG00533, NA20506, NA19658, HG00619, HG01390, NA18566, HG01073, HG00273, NA20299, NA11894, NA18856, HG00117, HG00613, HG00525, HG00321, NA12827, NA19257, HG00276, NA18634, NA18945, HG01204, NA19436, NA20765, HG00124, NA18542, NA12716, NA18909, HG00285, NA19435, NA20804, HG00278, NA19144, NA20785, NA19334, NA19439, NA20516, NA06986, NA19398, NA18971, HG01491, HG00656, HG00186, HG00698, NA20528, HG01378, NA18488, HG01082, NA18511, NA07000, NA18522, NA18622, HG01061, NA12776, NA18965 | | Known Genes | SACM1L | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2671340
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 563 | | Observed Complex | 0 | | Frequency | n/a |
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