Variant DetailsVariant: esv2656588 | Internal ID | 9922693 | | Landmark | | | Location Information | | | Cytoband | 3p13 | | Allele length | | Assembly | Allele length | | hg38 | 414 | | hg19 | 414 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5778535, essv6405324, essv5440148, essv5676968, essv5935481, essv5664317, essv5620437, essv6336180, essv5436816, essv6380693, essv5897548, essv5816145, essv5894408, essv6133854, essv6106542, essv5658025, essv6557264, essv5797030, essv6345673, essv6331599, essv6278510, essv5915819, essv6561335, essv5803751, essv6076688, essv5881878, essv5772394, essv5991650, essv5916549, essv6152423, essv5564935, essv5401083, essv5985327, essv5988837, essv5837904, essv6014760, essv6032858, essv5668737, essv6069318, essv5599723, essv6585516, essv6467745, essv5875966, essv5780543, essv5555430, essv6023007, essv6492724, essv6427982, essv5859032, essv5973648, essv6294480, essv6100773, essv5474772, essv5471648, essv6591433, essv5550521, essv6506326, essv5420448, essv6470373, essv6277571, essv6125105, essv6168655, essv5711840, essv6314843, essv6270763, essv5799204, essv6432187, essv5737680, essv6569794, essv6597637, essv6335287, essv6046624, essv6501823, essv6041369, essv5433912, essv6042885, essv6595396, essv5766096, essv5764911, essv6008823, essv6514650, essv6273048, essv6057643, essv6587818, essv5946463, essv5422854, essv6122804, essv5984856, essv5663282, essv5571299, essv5883864, essv6019753, essv5594616, essv5448017, essv5566773, essv5631113, essv5441398, essv6324170, essv5427765, essv6098840, essv6036601, essv5673083, essv6187470, essv6386420, essv5433241, essv6176803, essv5661894, essv5504463, essv5934609, essv5811243, essv5798672, essv6383284, essv5995485, essv5777938, essv6224787, essv6405887, essv5499018, essv6221973, essv5954007, essv5586166, essv6025523, essv6398858, essv5602029, essv5898776, essv6400309, essv6284982, essv5841831, essv6102231, essv5778175, essv5650274, essv6002737, essv6452148, essv5577747, essv6577914, essv6370233, essv6294755, essv6142823, essv5422179, essv6487425, essv6300723, essv5589801, essv5457121, essv6010140, essv5818307, essv6136622, essv6150878, essv5534314, essv6445668, essv6338424, essv5757243, essv5464164, essv6142236, essv6000649, essv6052534, essv6135957, essv6255033, essv6318405, essv5593113, essv6378561, essv6198671, essv5832647, essv5803894, essv5508253, essv5477684, essv5411950, essv5510293, essv5532929, essv5677013, essv5943066, essv5805162, essv5535612, essv5414120, essv5885110, essv6499877, essv6411864, essv5608472, essv5509476, essv5940348, essv6567865, essv6313982, essv6347182, essv5780830, essv5444404, essv5930084, essv6427263, essv6303392, essv6592669, essv5589391, essv6482903, essv5736101, essv6450620, essv6247494, essv5677634, essv6584109, essv5484911, essv6421858, essv5891662, essv5494166, essv6460976, essv6546160, essv6106087, essv5865174, essv6088982, essv5654657, essv5744464, essv6461505, essv6382332, essv5761277, essv6114617, essv5435059, essv6164171, essv5888482, essv5494281, essv6440265, essv5681785, essv5762265, essv6323466, essv5789257, essv5525065, essv6063722, essv6039675, essv6593308, essv5516847, essv5923510, essv5668724, essv5765604, essv6041850, essv6407902, essv6097323, essv6307344, essv6307319, essv5676362, essv6360113, essv6339014, essv6150622, essv6011723, essv5839670, essv6252284, essv6209064, essv6474107, essv6086441, essv5611135, essv6479865, essv6133228, essv5963396, essv6229522, essv6023707, essv5789368, essv5443277, essv5960005, essv5719371, essv5839023, essv5666699, essv6333359, essv5823280, essv5741789, essv6048595, essv5502384, essv5987453, essv6282822, essv5666388, essv6024992, essv5968868, essv6230047, essv5762739, essv5737774, essv5461044, essv6187480, essv6162109, essv6565742, essv5839148, essv5828575, essv6171098, essv6544004, essv6313818, essv6123311, essv6156324, essv6035379, essv5957590, essv5807539, essv5659655, essv6237871, essv6188454, essv5895944, essv5749197, essv6123841, essv6124680, essv5401313, essv5465944, essv6495687, essv6454853, essv6253974, essv5894474, essv5587592, essv5522254, essv6316631, essv6166106, essv6118825, essv6533240, essv6315419, essv6104463, essv5683373, essv5700101, essv6403941, essv6276340, essv5473916, essv5408872, essv6536302, essv6165835, essv6551983, essv6484929, essv6083739, essv6301990, essv6172664, essv6521052, essv5850031, essv5690661, essv6404166, essv5767348, essv5993958, essv6015374, essv6453281, essv5468167, essv6565896, essv6043895, essv6452293, essv6186131, essv5562673, essv5870442, essv5748632, essv5729859, essv6378726, essv5893911, essv5841139, essv5463581, essv5975485, essv5714640, essv5970173, essv5664045, essv5559871, essv6257860, essv6287292, essv5757421, essv5521841, essv5462810, essv6516948, essv5924613, essv5809925, essv5717209, essv5452808, essv6504607, essv6116178, essv6012395, essv6085215, essv5401217, essv6587236, essv5742687, essv5926273, essv5633607, essv6326767, essv5507098, essv6000316, essv6061694, essv5611749, essv5582067, essv6357061, essv6422971, essv5475372, essv6473010, essv5657096, essv5759514, essv5539012, essv6131779, essv5784940, essv6316306 | | Samples | NA19701, NA20761, HG00143, NA19703, HG01462, NA18861, NA10851, NA19399, NA12273, NA12414, NA11931, HG00151, NA19355, NA18504, NA19684, NA18530, HG00654, NA19443, NA19920, NA18633, NA20771, NA18510, NA12750, NA18602, HG00693, NA18988, HG00337, HG00271, HG00663, NA19446, NA07346, NA18563, NA19373, NA19171, NA19379, NA18519, HG00272, NA19319, NA20798, HG01351, NA19678, NA18923, NA18558, NA18547, NA18574, NA11918, NA07347, NA18582, NA19457, NA18571, HG01083, HG00334, NA20287, NA19384, HG00537, HG00243, NA20291, NA19130, NA19079, HG00158, NA19720, HG01080, NA20278, HG00335, NA18868, HG00232, NA11994, NA19172, NA19722, HG00160, NA18990, NA19239, NA18985, HG00323, NA18867, HG00253, NA20515, NA20755, NA20753, HG00154, NA18605, NA19908, NA12489, NA18538, HG00282, NA19056, NA19670, NA19403, HG00732, NA20521, HG00583, HG01498, HG00275, NA20519, NA18871, NA18534, HG00551, NA19064, HG00740, NA18907, NA18537, NA19461, NA11919, HG00250, HG00479, NA20581, NA11893, NA19750, NA06989, NA19099, HG01334, NA19009, HG00152, NA19452, NA18963, HG00704, HG00463, NA19469, HG01107, NA18953, HG01148, NA19375, NA19003, HG00258, NA18533, NA19390, HG00336, NA19256, NA19147, HG00625, NA18564, NA19747, HG00353, HG00580, HG00734, HG01357, HG00098, NA20790, NA20527, NA20778, NA19679, NA19470, NA19428, NA19324, NA19311, NA20544, HG01137, NA19360, NA19783, NA12763, HG00662, HG00418, HG01342, NA12347, NA19328, NA18501, HG00614, NA19785, HG00342, NA19716, NA19093, NA20510, NA18636, NA20289, NA18609, HG00310, NA19770, HG00280, NA11843, NA19116, NA19780, NA19711, HG00274, NA20503, HG00595, HG01125, HG00171, NA18624, NA12006, NA18623, NA12154, NA19065, NA18612, NA20754, NA19346, HG00581, NA18577, NA18620, HG00626, HG00403, HG01060, NA11830, NA19700, NA19055, HG00231, NA19397, NA11995, NA11829, HG00361, HG01359, HG01052, HG01079, NA18561, NA18507, NA11933, NA18599, HG00306, NA18603, NA12045, HG00318, NA18486, HG01465, HG00699, NA19819, NA19393, NA19777, NA18596, NA18606, HG00179, NA20346, HG00150, NA20507, NA19190, NA18870, NA07357, HG01140, HG00327, NA18967, NA19746, NA19660, NA19381, NA20796, NA19005, NA18550, NA19382, NA18489, NA19762, HG01488, HG00689, NA19723, NA18635, NA12891, NA12348, HG00634, NA11992, NA19197, HG01354, NA19313, NA19054, NA18498, NA20513, NA19681, HG00590, NA18611, HG01134, NA19651, HG00120, NA19383, NA20819, HG00236, HG01495, NA19917, NA19719, NA19371, NA19731, NA19075, NA19385, HG00422, NA19087, HG01440, HG00309, NA19189, HG00338, HG00159, NA12828, NA18975, NA18973, HG00530, HG00108, HG00260, NA18614, HG01353, HG00133, HG01183, HG00149, HG00560, NA19210, NA19082, HG01187, NA19707, HG00596, HG00328, HG00428, NA19462, HG00190, NA20809, HG00653, HG00577, NA18956, HG01515, NA20536, NA19391, HG00436, HG00584, HG00500, NA19658, NA18910, NA18630, NA19776, HG00635, HG01073, HG00273, NA19114, NA19774, NA19449, HG01197, NA18499, NA18856, NA12249, NA12892, NA19257, NA19756, NA18536, NA19436, NA18546, NA18608, NA19685, NA19401, NA20522, NA18542, NA18909, HG01190, HG00285, NA18961, NA18543, NA18559, HG00375, HG00136, NA18941, HG00638, NA19240, NA19380, NA12046, HG01494, NA19786, NA19467, HG01108, NA06986, HG00269, HG00125, NA19759, NA20582, NA19060, NA12749, HG00656, HG01055, HG00174, HG00123, NA12830, HG00186, HG00131, HG01251, HG01377, HG00472, NA18505, HG01378, NA19755, NA19004, NA19758, HG00345, HG01191, NA18622, HG01061, HG00437, NA18965 | | Known Genes | MITF | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | High quality site | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2656588
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 375 | | Observed Complex | 0 | | Frequency | n/a |
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