Variant DetailsVariant: esv2662608 | Internal ID | 9582027 | | Landmark | | | Location Information | | | Cytoband | 12q13.12 | | Allele length | | Assembly | Allele length | | hg38 | 3348 | | hg19 | 3348 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5468042, essv6160021, essv5853377, essv6288819, essv6002783, essv5819655, essv5718008, essv6561777, essv6364331, essv6219587, essv6194528, essv5836553, essv6452826, essv6024120, essv6242332, essv5899514, essv5532324, essv5970780, essv6585615, essv5855217, essv6156227, essv6581670, essv6061591, essv5891737, essv6414846, essv6027877, essv6549176, essv6099716, essv5939510, essv6372622, essv5405956, essv6321226, essv5699777, essv5696446, essv6297602, essv5878942, essv6578563, essv6407456, essv6524015, essv6500488, essv6302694, essv5990161, essv5700242, essv6301084, essv6190341, essv6110547, essv6575569, essv6353160, essv5762645, essv5921989, essv5821569, essv5506663, essv5765406, essv5535652, essv6455852, essv5977699, essv6232149, essv5816143, essv5882706, essv6187877, essv6280177, essv5817945, essv5775603, essv6393340, essv5746240, essv6035976, essv6435118, essv5727252, essv5575688, essv6330855, essv5739883, essv6006982, essv5937183, essv5659992, essv6060442, essv5665497, essv5853752, essv6208419, essv6133969, essv6087707, essv5869203, essv5644527, essv5760483, essv6418544, essv6240361, essv6520594, essv5979722, essv5805416, essv6517945, essv5932489, essv6130461, essv5436311, essv5815972, essv5424221, essv6290917, essv5507019, essv5894930, essv6392092, essv5436187, essv5673821, essv6503337, essv5448221, essv5674650, essv6514514, essv6402259, essv6072962, essv6057805, essv6483958, essv6454048, essv6014999, essv5483729, essv6044095, essv6453744, essv5830398, essv5418872, essv6125361, essv6119684, essv5525359, essv6001809, essv6553994, essv5865462, essv6227677, essv5683676, essv5665792, essv5464609, essv6339937, essv5922746, essv5866544, essv6174673, essv5618341, essv5572159, essv5794838, essv5585355, essv5744495, essv5427223, essv5587987, essv5812406, essv5675179, essv6351694, essv6189622, essv6595437, essv6377938, essv5999591, essv6523637, essv5663709, essv6247292, essv5870469, essv6129985, essv6438083, essv6173719, essv5649855, essv5536302, essv6035082, essv5638987, essv5547547, essv5476880, essv5818584, essv5477150, essv5711063, essv6230804, essv6348011, essv5752533, essv5571900, essv5738576, essv5951535, essv6239764, essv5481521, essv6137606, essv6581948, essv6331770, essv5913650, essv5954869, essv5565917, essv6252028, essv6495993, essv6276680, essv6038997, essv5947610, essv6503953, essv5839034, essv6154408, essv5804821, essv5989027, essv5472943, essv5746599, essv5815851, essv5441146, essv5550054, essv5602822, essv5453128, essv6122645, essv6281058, essv5814677, essv6056301, essv6191749, essv6067820, essv5871668, essv5468015, essv6593314, essv6311078, essv5996623, essv6111048, essv5608316, essv5858994, essv6526788, essv6244248, essv5677647, essv5642450, essv6281134, essv5711442, essv6253518, essv6151765, essv6511339, essv6218211, essv6539866, essv5800555, essv5839270, essv5716529, essv6081029, essv6352894, essv5918766, essv6401967, essv6366333, essv6576877, essv6366716, essv6209295, essv5858157, essv6317310, essv5620021, essv5958482, essv6383056, essv6468604, essv5771643, essv6571695, essv6101238, essv6072667, essv6139374, essv5694068, essv5952195, essv6368280, essv6128143, essv6334385, essv6150325, essv6148041, essv6251034, essv5492453, essv5487598, essv5425084, essv5417345, essv6193523, essv6211482, essv6047813, essv5968773, essv5739136, essv6053450, essv6470094, essv5592194, essv6351692, essv6246305, essv6481108, essv6175962, essv5752091, essv5726950, essv5777113, essv6154333, essv5990178, essv6207105, essv5484953, essv6517109, essv5927475, essv6176088, essv6078181, essv6064331, essv5599258, essv6181600, essv6380023, essv6423491, essv6428211, essv6408996, essv6123476, essv5776913, essv6334254, essv5612783, essv5407470, essv6004346, essv5457031, essv6453311, essv6295767, essv6527239, essv6279954, essv6176995, essv5965737, essv6450153, essv6214118, essv6064553, essv5585898, essv6419252, essv5502020, essv6019622, essv6315447, essv5996710, essv5919213, essv6035593, essv5754249, essv5597731, essv5499650, essv6293051, essv5423807, essv6484320, essv5717606, essv5708114, essv5596329, essv5507020, essv5780524, essv6380441, essv6017519, essv6156088, essv6314247, essv6520854, essv5689073, essv5971541, essv5936366, essv5628340, essv6021478, essv6200257, essv5938603, essv6140761, essv5524826, essv5787781, essv6510376, essv5752053, essv6382227, essv5835817, essv5918549, essv6354872, essv5920483, essv6349061, essv6549316, essv6058063, essv5434004, essv5457822, essv6515906, essv5769464, essv5929779, essv5999309, essv5653023, essv6557586, essv5727162, essv5712500, essv6184556, essv6027873, essv6210594, essv6465205, essv6362804, essv6133822, essv6199794, essv6464145, essv5682850, essv5612835, essv5927731, essv6205359, essv5834205, essv6468461, essv5711945, essv6296767, essv5920967, essv6574230, essv5670952, essv6593875, essv6477955, essv6059798, essv5689611, essv5656155, essv5870268, essv6568139, essv6490248, essv5444584, essv5837164, essv6103158, essv6040662, essv5864851, essv5554670, essv5509894, essv5597848, essv6039564, essv6141941, essv5933765, essv6186424, essv5829382, essv5616868, essv5506387, essv5489692, essv5910819, essv5695009, essv5407042, essv5821682, essv5633230, essv5803133, essv5460314, essv6261013, essv6400980, essv5492490, essv5984664, essv5721310, essv6347463, essv5766301, essv6149291, essv6049570, essv6313499, essv6236685, essv6039403, essv6187451, essv5500410, essv6163991, essv6559496, essv6318756, essv5857597, essv5453420, essv6200618, essv6030937, essv5874034, essv6364703, essv6124264, essv6076915, essv6531708, essv5647515, essv5722589, essv5966531, essv5918920, essv5961490, essv6505900, essv6395923, essv6451995, essv5963444, essv5992529, essv6244672, essv6131677, essv6539017, essv6162945, essv6343714, essv5400782, essv6255139, essv6489496, essv6553730, essv5597466, essv6060413, essv5467269, essv5499977, essv6306104, essv5591024, essv6269018, essv6565509, essv6586538, essv5693979, essv5432778, essv6536215, essv5462135, essv5545579, essv6324980, essv5491519, essv6248207, essv6449285, essv5942272, essv6102129, essv6256433, essv5632180, essv5797706 | | Samples | HG00189, HG00650, HG00442, HG00608, HG00142, NA19664, NA19399, HG00257, HG00151, NA19684, NA19377, HG01461, NA19920, HG00337, NA19446, HG00138, HG01350, HG00589, NA19678, HG01167, HG01492, HG01083, HG01365, NA19384, HG00537, HG00311, HG00243, NA19079, HG00158, HG00512, HG00281, HG00139, NA19720, HG00335, NA18985, HG00326, HG00323, NA19789, NA19921, HG00137, HG00731, HG00266, NA19070, NA19056, HG01095, HG00657, NA19717, NA19663, HG00344, NA19081, NA18981, HG00692, HG01047, HG01102, NA19084, HG00690, HG00404, HG00331, NA19750, NA19453, HG01334, NA19009, NA19452, NA19682, HG00463, NA19625, HG01107, HG00611, NA19652, NA19440, HG00336, NA19712, NA19434, HG00580, NA19444, NA19010, HG01174, NA19470, NA19428, HG00116, NA19083, NA18943, NA19360, HG00662, HG01342, HG00614, HG00513, HG00478, HG00112, HG00377, HG00274, HG00595, HG00628, NA19065, NA19429, NA19074, HG01437, HG00581, NA19431, HG00593, HG01060, HG00114, HG01441, NA19648, NA19700, NA19055, NA19397, NA19466, HG01359, HG01052, HG01079, HG00100, NA19704, HG01188, HG01389, HG01374, HG00306, HG00699, NA19819, HG00150, NA19068, NA19660, NA19076, HG00251, HG00702, HG00689, NA19723, NA19916, HG00330, HG00634, HG00736, HG00610, HG01354, NA19313, HG00247, NA19054, NA19681, HG00590, HG01134, HG00277, NA19651, HG00120, HG00683, HG00106, HG01170, HG00236, HG00262, NA19719, NA19371, NA19075, NA19471, HG01176, NA19087, HG00182, NA19002, NA19725, HG00637, HG00338, HG00178, HG00530, HG00419, NA19451, HG00464, HG00108, NA19007, HG00543, HG01136, HG00629, NA19657, HG00183, NA19082, NA19707, HG01384, NA19077, HG00428, NA19462, NA19347, NA19391, HG00475, NA19982, HG00584, HG00500, NA19788, NA18976, NA19000, NA19655, HG00373, HG01197, HG01383, HG01182, NA19685, HG00476, HG00119, NA19834, NA18950, HG00375, HG00136, HG00607, HG00319, HG01108, HG00256, HG00125, NA19818, NA19376, NA19078, HG00707, HG00672, HG00312, NA19438, NA19472, HG00329, NA18987, NA19713, NA19726, HG00343, HG00372, HG00252, HG00472, HG00345, HG01191, HG00437, NA19394, NA19701, HG00542, HG01173, HG00143, NA19703, HG01462, NA19909, HG00671, NA19066, HG00242, HG01066, HG00315, HG00244, NA19350, HG00181, NA19359, NA19355, NA18959, HG00737, HG00115, HG00449, HG00654, NA19443, HG01051, HG00261, HG00693, HG00271, HG00663, HG00641, NA19373, NA18940, HG00272, HG01351, HG01168, NA19457, HG00334, HG00185, NA19904, HG01069, HG01080, HG00156, HG00325, HG00232, NA19372, HG00534, HG00705, NA19722, HG00160, HG00118, NA18990, HG01198, HG01048, HG00253, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19403, HG00557, HG00245, HG00732, HG00368, NA19455, HG00556, HG00583, HG00263, HG00275, HG01149, HG00239, HG00740, NA19654, HG00324, HG00284, NA19461, HG00651, HG00250, HG00531, HG00479, HG00684, HG01101, HG00140, HG00146, NA18963, HG00704, NA19469, HG00246, HG01075, NA19012, HG01148, NA19375, NA19003, HG00258, HG00155, HG00254, NA19390, HG00265, HG00625, HG00353, NA19072, HG00734, HG01375, NA19835, HG00473, HG00237, NA19679, NA19311, NA19783, HG00418, HG01489, HG00620, HG00339, HG00259, HG00342, NA19716, NA19468, NA19474, HG00310, HG00280, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA19312, HG00171, NA19463, NA19346, NA19676, HG00403, HG01356, HG00536, HG00231, HG00249, HG00361, HG00524, NA19914, HG00187, NA19332, HG00367, HG00318, HG01465, NA19777, HG01140, HG00327, NA18967, NA19374, NA19396, NA19381, HG01366, HG01070, HG00501, NA19382, NA19448, HG01488, HG00448, NA18982, HG00346, NA19088, HG00369, HG00270, NA19782, NA19404, HG01067, NA19383, NA18977, NA19917, HG01072, NA19731, HG00422, NA18986, HG01440, HG00309, HG00427, NA19901, HG00159, NA19456, NA19445, HG00264, HG00260, HG01353, HG00313, HG00133, HG01183, HG01187, HG00596, HG00328, HG00190, HG00653, HG00701, HG00436, HG00320, HG00533, HG00619, HG00708, HG01390, HG01073, HG00273, NA19449, HG00117, HG00613, HG00525, HG00321, HG00157, NA19338, HG00276, NA19675, NA18945, HG01204, NA19436, HG00124, HG01190, HG00285, NA18961, HG00366, NA19473, HG00357, NA19435, NA18941, HG00278, NA19380, NA19334, NA19439, NA19467, NA19085, HG00269, NA19398, HG00111, HG01491, NA19060, HG00421, HG00656, HG01055, HG00123, HG00186, HG00698, HG00131, NA19661, HG01378, NA19755, HG01082, HG00180, HG01061 | | Known Genes | KMT2D, PRKAG1 | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2662608
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 467 | | Observed Complex | 0 | | Frequency | n/a |
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