Variant DetailsVariant: esv2421695 | Internal ID | 8252143 | | Landmark | | | Location Information | | | Cytoband | 5q35.3 | | Allele length | | Assembly | Allele length | | hg38 | 54640 | | hg19 | 54640 | | hg18 | 54640 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5156111, essv5075351, essv5075105, essv5054805, essv5007753, essv5020715, essv5134092, essv5133127, essv5049136, essv5134719, essv5069926, essv5075317, essv5042198, essv5007685, essv5100774, essv5140703, essv5076592, essv5008566, essv5075442, essv5041854, essv5027488, essv5002650, essv5029253, essv5024100, essv5024279, essv5078061, essv5084787, essv5155724, essv5099119, essv5079081, essv5074340, essv5046767, essv5031180, essv5084186, essv5023555, essv5002364, essv5128462, essv5114385, essv5113021, essv5097373, essv5023965, essv5141687, essv5038328, essv5010147, essv5052006, essv5024113, essv5146934, essv5058403, essv5144884, essv5157414, essv5140167, essv5096575, essv5011524, essv5064865, essv5152424, essv5088302, essv5055840, essv5062180, essv5049857, essv5141178, essv5126139, essv5040746, essv5129351, essv5052452, essv5004299, essv5098928, essv5118109, essv5045327, essv5128893, essv5031686, essv5114727, essv5113839, essv5009053, essv5096109, essv5060892, essv5019791, essv5136160, essv5061516, essv5026778, essv5071472, essv5041719, essv5158770, essv5031425, essv5096590, essv5159899, essv5070178, essv5148473, essv5138382, essv5083469, essv5054134, essv5099658, essv5010332, essv5048861, essv5127161, essv5019434, essv5105226, essv5135619, essv5140995, essv5120405, essv5086666, essv5100572, essv5050092, essv5080408, essv5067795, essv5154378, essv5146400, essv5081193, essv5136559, essv5021689, essv5027999, essv5014930, essv5123821, essv5035450, essv5022411, essv5038808, essv5087030, essv5027891, essv5008884, essv5007858, essv5141954, essv5008142, essv5126597, essv5120408, essv5084902, essv5053618, essv5092076, essv5063640, essv5026259, essv5010496, essv5142142, essv5133978, essv5112391, essv5064796, essv5047074, essv5081958, essv5099386, essv5095294, essv5076089, essv5119540, essv5027334, essv5002760, essv5094481, essv5049407, essv5107485, essv5067698, essv5136534, essv5066502, essv5045428, essv5063533, essv5022041, essv5023938, essv5016051, essv5124519, essv5064832, essv5056214, essv5029951, essv5141760, essv5027431, essv5156956, essv5147494, essv5131064, essv5101420, essv5132330, essv5044335, essv5080785, essv5108959, essv5154249, essv5123384, essv5050054, essv5092133, essv5073963, essv5048037, essv5096954, essv5083582, essv5024884, essv5008705, essv5053394, essv5141548, essv5069576, essv5149226, essv5098062, essv5004361, essv5083532, essv5108863, essv5003262, essv5113516, essv5028316, essv5087706, essv5083987, essv5156201, essv5012370, essv5151152, essv5095712, essv5059778, essv5117385, essv5024393, essv5048651, essv5139033, essv5122004, essv5070914, essv5106756, essv5129218, essv5070892, essv5137423, essv5114917, essv5021152, essv5006310, essv5125290, essv5147464, essv5123932, essv5127354, essv5056555, essv5144709, essv5120995, essv5020068, essv5011568, essv5129875, essv5104446, essv5160266, essv5158936, essv5145867, essv5123150, essv5112732, essv5023324, essv5117378, essv5158162, essv5050031, essv5117610, essv5015075, essv5060313, essv5124762, essv5140193, essv5048306, essv5147552, essv5143217, essv5150809, essv5157487, essv5157912, essv5147135, essv5004128, essv5060679, essv5158816, essv5140026, essv5071317, essv5083406, essv5054579, essv5044476, essv5106926, essv5145710, essv5096596, essv5053365, essv5079394, essv5046770, essv5015617, essv5104728, essv5080036, essv5145983, essv5029994, essv5057460, essv5124417, essv5056079, essv5046891, essv5119013, essv5062505, essv5080497, essv5126961, essv5116104, essv5076798, essv5113305, essv5019478, essv5085635, essv5021826, essv5027863, essv5006779, essv5076943, essv5110640, essv5081735, essv5101895, essv5112754, essv5110279, essv5130791, essv5068366, essv5045788, essv5026841, essv5096972, essv5105927, essv5119064, essv5158848, essv5037578, essv5089178, essv5090956, essv5084005, essv5083910, essv5079706, essv5016928, essv5004148, essv5051406, essv5010441, essv5086732, essv5070295, essv5043509, essv5118874, essv5051565, essv5018456, essv5140951, essv5109237, essv5010559, essv5157051, essv5153126, essv5107724, essv5085333, essv5045166, essv5043926, essv5153014, essv5123872, essv5153822, essv5015103, essv5088839, essv5101591, essv5145674, essv5037255, essv5090507, essv5015940, essv5143598, essv5036989, essv5154028, essv5143619, essv5123479, essv5108052, essv5048427, essv5107697, essv5068518, essv5094230, essv5030757, essv5095846, essv5014085, essv5048250, essv5097994, essv5010585, essv5016285, essv5029588, essv5026407, essv5035250, essv5081490, essv5142705, essv5122819, essv5145095, essv5002214, essv5157814, essv5140766, essv5037076, essv5074873, essv5093974, essv5081769, essv5068533, essv5069805, essv5154337, essv5064843, essv5044746, essv5133226, essv5036421, essv5159334, essv5067056, essv5140282, essv5089903, essv5031019, essv5152657, essv5064636, essv5027093, essv5017673, essv5140622, essv5023522, essv5141562, essv5130496, essv5142178, essv5051070, essv5023205, essv5019960, essv5123983, essv5093988, essv5059884, essv5149030, essv5040808, essv5039259, essv5035977, essv5088848, essv5087608, essv5111097, essv5055507, essv5028171, essv5099194, essv5135674, essv5062707, essv5111335, essv5111479, essv5011225, essv5054639, essv5041191, essv5027124, essv5153594, essv5083633, essv5086005, essv5119813, essv5062756, essv5017609, essv5147767, essv5049646 | | Samples | NA19153, NA12776, NA20509, NA21333, NA20588, NA18745, NA12383, NA20882, NA20761, NA19028, NA19058, NA20529, NA21488, NA20891, NA20766, NA12286, NA20508, NA19664, NA19066, NA18647, NA20300, NA19399, NA12273, NA18524, NA18935, NA12843, NA11920, NA11931, NA12344, NA20816, NA20802, NA18639, NA12146, NA18124, NA18959, NA12832, NA20356, NA18633, NA18510, NA12750, NA20806, NA19067, NA18602, NA18969, NA21434, NA17974, NA19373, NA19171, NA17986, NA18940, NA17980, NA19315, NA18597, NA10846, NA20589, NA19678, NA18107, NA19191, NA19686, NA18101, NA18993, NA18960, NA18618, NA18582, NA20768, NA19784, NA19650, NA17983, NA19079, NA11930, NA20759, NA20539, NA19720, NA20518, NA21109, NA20775, NA12156, NA20812, NA19238, NA11994, NA18748, NA19172, NA10850, NA19128, NA18154, NA18990, NA19708, NA10839, NA20757, NA20515, NA19789, NA18129, NA19921, NA20301, NA18645, NA12777, NA17998, NA20535, NA18747, NA12760, NA12489, NA12752, NA19056, NA07022, NA21448, NA19670, NA21596, NA18674, NA21119, NA20810, NA12877, NA19683, NA18579, NA21631, NA18948, NA20358, NA12234, NA18548, NA18537, NA20525, NA19654, NA17979, NA11919, NA20866, NA18626, NA17999, NA12056, NA19750, NA18122, NA19154, NA12145, NA12707, NA19761, NA19452, NA18963, NA19682, NA12144, NA19469, NA10856, NA18593, NA12546, NA18974, NA18953, NA18108, NA20799, NA18114, NA18632, NA19652, NA18702, NA19147, NA18564, NA12057, NA21576, NA18628, NA20815, NA12272, NA21685, NA12873, NA20530, NA20527, NA20792, NA20778, NA20902, NA19679, NA17970, NA20544, NA19083, NA07348, NA19783, NA19778, NA19662, NA17995, NA20897, NA18501, NA21435, NA06994, NA07435, NA10843, NA20849, NA19468, NA19211, NA20852, NA18609, NA20786, NA12875, NA18138, NA11843, NA20826, NA19711, NA19900, NA17972, NA18957, NA19129, NA18670, NA18624, NA12006, NA21487, NA18623, NA18740, NA18144, NA20908, NA10837, NA19074, NA19431, NA18577, NA20772, NA18620, NA18997, NA18143, NA18120, NA18998, NA19222, NA11830, NA21686, NA20543, NA19055, NA19203, NA11829, NA10845, NA19914, NA20899, NA18561, NA20531, NA18599, NA17975, NA20813, NA12045, NA07029, NA21648, NA20805, NA19777, NA18596, NA12865, NA20808, NA18526, NA12400, NA18962, NA12155, NA07357, NA18967, NA19068, NA19746, NA19660, NA19076, NA18944, NA18550, NA19382, NA20890, NA19448, NA19902, NA20586, NA18635, NA20900, NA20769, NA12348, NA19649, NA19653, NA18642, NA20540, NA19771, NA19313, NA19088, NA12287, NA20288, NA20336, NA06993, NA20541, NA18611, NA12761, NA18749, NA12282, NA12005, NA18970, NA06984, NA18977, NA10853, NA19371, NA19677, NA19075, NA19385, NA19471, NA21478, NA18131, NA12889, NA19725, NA19189, NA19721, NA19665, NA19209, NA21634, NA18975, NA12375, NA18954, NA18150, NA19451, NA18638, NA20129, NA11993, NA21106, NA20818, NA18614, NA10847, NA18544, NA19210, NA18613, NA20787, NA18934, NA20524, NA10836, NA12342, NA12003, NA10863, NA10831, NA12872, NA18956, NA19748, NA18991, NA19236, NA18939, NA19982, NA18685, NA18132, NA20506, NA20126, NA19658, NA20770, NA10838, NA19776, NA19179, NA18757, NA18566, NA19774, NA19000, NA21141, NA20538, NA19001, NA19772, NA12239, NA18853, NA12827, NA12264, NA20282, NA18135, NA12817, NA10852, NA12766, NA20828, NA20542, NA19675, NA18945, NA19436, NA18576, NA20765, NA19035, NA18546, NA19685, NA19727, NA21113, NA19680, NA06995, NA21424, NA20773, NA20522, NA18542, NA18162, NA20801, NA12716, NA11881, NA18961, NA18559, NA12864, NA10859, NA19749, NA19240, NA21425, NA21740, NA21647, NA10861, NA10840, NA18643, NA20803, NA12874, NA19085, NA07055, NA06986, NA19078, NA12740, NA20302, NA21580, NA21088, NA19472, NA19173, NA18987, NA20334, NA18994, NA21486, NA18149, NA18972, NA20528, NA19661, NA20128, NA21490, NA19757, NA17981, NA19755, NA18955, NA07000 | | Known Genes | BTNL3, BTNL8 | | Method | SNP array | | Analysis | To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays. | | Platform | Not specified | | Comments | | | Reference | Altshuler_et_al_2010 | | Pubmed ID | 20811451 | | Accession Number(s) | esv2421695
| | Frequency | | Sample Size | 1184 | | Observed Gain | 0 | | Observed Loss | 407 | | Observed Complex | 0 | | Frequency | n/a |
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