Variant DetailsVariant: esv2421358 | Internal ID | 8251806 | | Landmark | | | Location Information | | | Cytoband | 2p11.2 | | Allele length | | Assembly | Allele length | | hg38 | 785 | | hg19 | 785 | | hg18 | 785 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5085653, essv5043015, essv5010158, essv5117766, essv5116573, essv5146143, essv5016877, essv5121321, essv5134207, essv5054083, essv5136785, essv5062333, essv5037135, essv5004025, essv5114731, essv5103288, essv5082151, essv5101790, essv5133504, essv5142583, essv5096255, essv5096535, essv5142331, essv5127113, essv5005340, essv5142870, essv5126069, essv5031061, essv5145228, essv5094174, essv5142686, essv5157374, essv5029592, essv5041056, essv5080673, essv5041916, essv5034225, essv5085738, essv5159369, essv5099370, essv5052344, essv5117080, essv5065609, essv5139986, essv5109228, essv5040916, essv5131742, essv5124408, essv5113026, essv5159185, essv5012782, essv5091991, essv5151150, essv5072851, essv5057046, essv5158348, essv5076366, essv5154835, essv5071911, essv5089865, essv5145081, essv5057345, essv5005658, essv5111072, essv5019799, essv5051853, essv5016244, essv5006426, essv5147586, essv5041046, essv5050207, essv5114729, essv5046918, essv5149153, essv5115433, essv5023866, essv5128187, essv5126977, essv5150784, essv5153351, essv5012373, essv5099310, essv5010947, essv5102091, essv5012901, essv5135888, essv5104572, essv5117581, essv5091306, essv5057997, essv5134560, essv5029193, essv5125959, essv5115049, essv5049581, essv5024562, essv5119076, essv5013442, essv5020442, essv5071196, essv5026485, essv5149862, essv5050080, essv5158426, essv5079554, essv5147173, essv5051633, essv5048339, essv5039146, essv5131096, essv5054231, essv5071629, essv5034990, essv5048641, essv5103289, essv5074640, essv5106035, essv5003242, essv5035403, essv5035453, essv5137246, essv5081453, essv5028368, essv5045468, essv5056635, essv5118716, essv5142137, essv5156061, essv5135804, essv5109474, essv5032184, essv5071180, essv5147981, essv5078313, essv5102458, essv5042496, essv5126268, essv5035923, essv5072638, essv5064488, essv5088456, essv5128050, essv5150483, essv5110467, essv5155312, essv5123267, essv5074243, essv5052919, essv5146360, essv5109407, essv5085011, essv5041178, essv5144014, essv5106096, essv5081221, essv5064858, essv5004798, essv5040283, essv5006810, essv5050558, essv5089781, essv5152116, essv5008339, essv5012877, essv5108754, essv5061129, essv5149558, essv5079975, essv5041755, essv5011311, essv5092038, essv5086983, essv5062386, essv5073582, essv5053630, essv5002076, essv5044119, essv5081411, essv5108121, essv5113349, essv5061332, essv5022508, essv5129968, essv5043298, essv5032885, essv5077737, essv5086841, essv5002921, essv5158046, essv5029644, essv5129811, essv5034381, essv5150189, essv5117591, essv5091979, essv5077148, essv5104106, essv5157808, essv5154050, essv5040159, essv5063099, essv5009391, essv5016135, essv5066852, essv5111266, essv5079166, essv5129847, essv5050270, essv5145121, essv5041930, essv5042648, essv5150783, essv5047644, essv5145058, essv5145008, essv5068621, essv5056882, essv5066173, essv5093728, essv5119400, essv5153293, essv5055872, essv5035812, essv5130237, essv5159792, essv5004238, essv5114720, essv5026830, essv5061638, essv5106149, essv5117955, essv5143964, essv5094679, essv5035513, essv5043672, essv5074954, essv5019798, essv5087152, essv5032125, essv5103025, essv5083697, essv5123882, essv5052650, essv5096251, essv5002109, essv5121240, essv5030733, essv5132739, essv5087075, essv5100095, essv5032038, essv5138280, essv5103357, essv5138040, essv5122908, essv5080346, essv5038850, essv5070975, essv5012489, essv5145977, essv5122566, essv5088722, essv5075199, essv5008362, essv5034607, essv5119980, essv5044758, essv5139552, essv5084911, essv5037681, essv5154094, essv5114104, essv5052469, essv5126157, essv5078552, essv5157142, essv5153260, essv5101307, essv5078974, essv5030044, essv5128305, essv5037334, essv5029564, essv5039488, essv5009863, essv5146830, essv5095177, essv5082311, essv5142786, essv5118952, essv5078917, essv5033160, essv5020229, essv5088835, essv5121011, essv5130299, essv5107364, essv5028670, essv5126679, essv5119180, essv5018156, essv5039356, essv5156251, essv5104459, essv5118794, essv5152590, essv5033626, essv5075030, essv5011588, essv5092807, essv5022832, essv5062256, essv5115306, essv5016217, essv5120523, essv5106584, essv5043326, essv5074180, essv5138602, essv5129124, essv5053657, essv5004621, essv5024972, essv5103275, essv5066295, essv5024679, essv5093578, essv5123959, essv5137229, essv5139065, essv5135807, essv5058245, essv5094983, essv5036853, essv5103523, essv5054016, essv5010495, essv5066932, essv5158078, essv5006794, essv5005566, essv5002021, essv5150745, essv5034374, essv5097649, essv5004059, essv5062516, essv5053260, essv5005308, essv5117693, essv5032985, essv5123645, essv5153948, essv5118406, essv5029152, essv5089537, essv5067855, essv5012668, essv5096121, essv5148401, essv5159897, essv5038611, essv5086503, essv5012605, essv5066078, essv5142950, essv5126396, essv5015876, essv5012680, essv5003899, essv5017466, essv5009369, essv5114972, essv5043701, essv5144748, essv5103737, essv5148713, essv5047947, essv5015197, essv5143514, essv5027518, essv5075347, essv5056545, essv5103663, essv5158622, essv5156560, essv5110263, essv5022023, essv5061847, essv5008710, essv5101682, essv5013607, essv5050529, essv5057810, essv5036582, essv5092711, essv5007916, essv5092165, essv5158165, essv5158688, essv5071917, essv5108954, essv5034818, essv5044256, essv5055737, essv5052749, essv5098742, essv5028114, essv5158298, essv5060793, essv5042535, essv5101615, essv5138313, essv5144465, essv5063737, essv5028850, essv5019560, essv5107294, essv5126241, essv5041269, essv5036197, essv5111445, essv5095120, essv5135283, essv5136950, essv5129429, essv5034200, essv5013341, essv5122085, essv5021933, essv5020746, essv5004006, essv5086348, essv5080090, essv5121933, essv5039742, essv5022662, essv5125085, essv5063568, essv5085064, essv5124010, essv5083538, essv5144225, essv5128770, essv5043072, essv5108039, essv5063945, essv5115144, essv5061107, essv5040985, essv5011314, essv5081667, essv5054901, essv5098609, essv5007975, essv5136030, essv5151194, essv5091066, essv5063585, essv5091304, essv5077717, essv5064671, essv5062509, essv5016780, essv5046940, essv5036317, essv5070338, essv5123231, essv5126275, essv5049100, essv5047732, essv5021373, essv5089736, essv5129685, essv5158211, essv5112815, essv5099196, essv5032660, essv5060739, essv5141306, essv5036477, essv5138668, essv5042883, essv5078557, essv5090716, essv5138455, essv5012429, essv5121526, essv5097811, essv5065698, essv5081143, essv5063269, essv5016605, essv5065011, essv5095997, essv5067849, essv5068472, essv5019450, essv5057823, essv5040891, essv5054990, essv5154530, essv5064434, essv5059143, essv5078668, essv5075303, essv5115993, essv5071818, essv5148804, essv5101448, essv5031429, essv5035793, essv5153508, essv5074763, essv5042843, essv5009357, essv5139609, essv5090682, essv5061856, essv5116324, essv5019226, essv5081841, essv5135455, essv5080111, essv5104014, essv5087671, essv5097181, essv5147678, essv5047437, essv5156785, essv5013040, essv5112670, essv5009248, essv5083058, essv5135186, essv5124773, essv5091038, essv5157990, essv5012364, essv5101551, essv5074045, essv5159932, essv5148094, essv5057694, essv5061989, essv5100541, essv5156540, essv5148181, essv5091634, essv5117042, essv5150025, essv5009389, essv5086637, essv5140523, essv5127778, essv5044673, essv5035647, essv5107594, essv5013498, essv5140426, essv5140042, essv5104353, essv5089805, essv5071158, essv5102506, essv5004317, essv5111458, essv5084229, essv5012941, essv5017870, essv5046172, essv5027579, essv5033948, essv5080104, essv5031866, essv5013848, essv5087748, essv5047128, essv5078262, essv5015418, essv5107997, essv5074246, essv5008816, essv5161127, essv5005765, essv5107478, essv5135651, essv5092642, essv5075386, essv5120046, essv5052267, essv5142139, essv5115322, essv5061850, essv5002122, essv5104924, essv5078430, essv5107107, essv5147985, essv5126855, essv5039086, essv5124425, essv5043324, essv5018444, essv5009318, essv5107762, essv5104721, essv5158073, essv5123744, essv5155120, essv5135016, essv5092900, essv5012587, essv5149555, essv5007698, essv5108129, essv5069790, essv5027529, essv5047710, essv5100096, essv5146203, essv5026652, essv5044732, essv5078300, essv5077354, essv5022921, essv5121859, essv5123441, essv5116458, essv5069033, essv5040806, essv5064414, essv5046820, essv5135927, essv5007043, essv5127857, essv5114952, essv5012010, essv5136477, essv5079974, essv5069048, essv5104073, essv5064048, essv5036871, essv5061671, essv5152427, essv5005571, essv5035127, essv5158077, essv5088519, essv5136422, essv5107977, essv5112029, essv5043819, essv5036514, essv5040931, essv5084978, essv5045379, essv5043375, essv5149486, essv5102906, essv5011507, essv5068604, essv5080126, essv5058646, essv5117362, essv5136589, essv5118168, essv5158940, essv5123334, essv5009790, essv5098611, essv5091870, essv5040537, essv5054146, essv5128848, essv5058965, essv5031474, essv5073103, essv5103537, essv5020703, essv5143850, essv5069029, essv5136842, essv5149125, essv5115216, essv5124203, essv5006926, essv5117098, essv5119596, essv5008180, essv5137029, essv5095397, essv5040437, essv5010548, essv5154658, essv5022294, essv5042013, essv5028017, essv5159364, essv5126461, essv5078436, essv5112144, essv5084532, essv5067005, essv5047218, essv5133016, essv5109139, essv5004686, essv5075794, essv5153631, essv5157959, essv5141163, essv5090943, essv5026589, essv5086792, essv5042480, essv5055511, essv5059921, essv5014322, essv5145639, essv5040347, essv5028082, essv5102437, essv5024654, essv5007362, essv5103113, essv5119711, essv5044142, essv5116045, essv5124287, essv5058909, essv5131542, essv5091952, essv5090387, essv5143018, essv5144286, essv5097231, essv5062596, essv5083319, essv5033730, essv5127077, essv5055277, essv5104542, essv5082217, essv5062367, essv5093511, essv5156629, essv5153069, essv5045683, essv5156272, essv5040698, essv5059127, essv5005508, essv5031486, essv5160735, essv5041933, essv5076948, essv5131379, essv5103284, essv5110462, essv5114084, essv5019125, essv5096346, essv5068295, essv5136665, essv5005511, essv5046832, essv5006675, essv5130397, essv5101924, essv5094289, essv5030120, essv5011027, essv5027764, essv5020268, essv5113226, essv5030682, essv5077326, essv5063063, essv5020157, essv5090417, essv5071973, essv5150348, essv5022763, essv5032764, essv5090092, essv5081930, essv5048466, essv5031410, essv5028987, essv5050892, essv5155867, essv5122792, essv5091774, essv5057586, essv5037387, essv5072580, essv5116691, essv5005081, essv5082838, essv5063082, essv5060463, essv5033891, essv5142457, essv5024971, essv5148734, essv5153280, essv5148022, essv5132978, essv5114110, essv5075017, essv5006902, essv5047494, essv5141903, essv5128408, essv5063084, essv5014665, essv5075350, essv5090416, essv5069158, essv5008108, essv5005791, essv5055647, essv5012924, essv5157139, essv5065036, essv5028515, essv5085326, essv5062323, essv5039576, essv5075183, essv5112426, essv5149829, essv5047939, essv5042030, essv5020578, essv5021845, essv5017294, essv5084179, essv5031920, essv5138531, essv5116845, essv5058455, essv5017766, essv5132404, essv5046465, essv5100131, essv5015024, essv5145520, essv5087501, essv5029884, essv5088635, essv5052428, essv5088247, essv5062715, essv5085120, essv5068728, essv5066519, essv5158765, essv5095265, essv5111150, essv5102278, essv5151656, essv5053568, essv5016248, essv5149719, essv5066009, essv5047062, essv5029852, essv5059896, essv5016052, essv5048895, essv5036224, essv5004906, essv5084752, essv5074022, essv5027806, essv5013878, essv5113952, essv5113589, essv5036406, essv5128741, essv5111713, essv5005471, essv5093189, essv5063627, essv5148425, essv5097059, essv5016136, essv5073078, essv5094411, essv5088032, essv5106905, essv5152863, essv5042369, essv5009409, essv5136946, essv5092915, essv5119606, essv5072667, essv5102719, essv5095932, essv5064585, essv5114789, essv5104796, essv5022309, essv5079985, essv5150004, essv5154092, essv5077531, essv5137767, essv5011398, essv5042224, essv5088054, essv5137723, essv5056596, essv5031117, essv5157261, essv5106887, essv5113974, essv5150074, essv5118619, essv5143290, essv5133808, essv5133481, essv5150789, essv5022452, essv5020668, essv5119105, essv5064190, essv5050053, essv5052832, essv5109968, essv5039758, essv5138085, essv5139794, essv5133259, essv5121348, essv5053048, essv5156760, essv5073276, essv5013966, essv5006666, essv5105395, essv5138824, essv5128013, essv5119566, essv5114364, essv5049526, essv5155431, essv5084508, essv5024776, essv5144883, essv5070489, essv5112964, essv5161090, essv5072171, essv5066133, essv5049294, essv5077954, essv5057755, essv5112876, essv5022627, essv5154362, essv5068594, essv5145527, essv5013983, essv5132085, essv5037246, essv5130893, essv5108528, essv5017575, essv5003765, essv5147689, essv5160659, essv5144059, essv5102735, essv5004184, essv5064244, essv5103695, essv5114443, essv5036221, essv5061066, essv5144559, essv5011364, essv5029512, essv5126176, essv5100503, essv5053827, essv5004795, essv5050777, essv5074508, essv5064409, essv5129606, essv5143967, essv5085432, essv5035237, essv5049443, essv5129308, essv5075743, essv5029155, essv5045550, essv5030110, essv5152610, essv5152242, essv5062840, essv5026193, essv5073660, essv5006443, essv5130459, essv5119930, essv5062577, essv5056449, essv5066116, essv5063574, essv5046979, essv5050784, essv5005224 | | Samples | NA20588, NA19028, NA20529, NA18621, NA19664, NA19399, NA18524, NA21099, NA12843, NA11920, NA18979, NA21489, NA21457, NA17990, NA18504, NA12146, NA19684, NA18152, NA18633, NA12750, NA21434, NA19127, NA21378, NA10835, NA21359, NA20589, NA18995, NA18107, NA12336, NA20756, NA21479, NA11918, NA18582, NA20768, NA12762, NA17983, NA20291, NA18136, NA19720, NA18160, NA10850, NA21523, NA19796, NA18102, NA20757, NA19985, NA19921, NA20892, NA12760, NA20800, NA19120, NA19056, NA21448, NA20297, NA21596, NA18674, NA18118, NA19184, NA20810, NA19663, NA19176, NA19751, NA21631, NA20875, NA18572, NA21438, NA18981, NA12234, NA19064, NA18537, NA19671, NA19142, NA11893, NA21112, NA11840, NA19750, NA18122, NA18532, NA12145, NA19009, NA18141, NA19682, NA19318, NA12778, NA10856, NA21316, NA18108, NA19652, NA18702, NA18517, NA21144, NA18863, NA19712, NA19434, NA18628, NA20909, NA12873, NA20520, NA21768, NA19010, NA19470, NA19360, NA12347, NA20897, NA19117, NA21435, NA18631, NA19223, NA18134, NA18609, NA19102, NA19770, NA18138, NA21384, NA19129, NA21487, NA18612, NA19429, NA18487, NA19431, NA18577, NA21403, NA18497, NA20284, NA19237, NA20290, NA17969, NA21477, NA19055, NA19794, NA18924, NA19466, NA11995, NA20292, NA18166, NA21476, NA18561, NA18507, NA18599, NA17975, NA12045, NA21115, NA12865, NA19836, NA19098, NA18526, NA18962, NA12413, NA12341, NA19068, NA19746, NA12812, NA18595, NA19723, NA18635, NA18860, NA20769, NA12287, NA19054, NA18498, NA19038, NA12761, NA18749, NA12282, NA20349, NA20340, NA21525, NA19075, NA18131, NA12889, NA19159, NA21716, NA19725, NA19189, NA21601, NA19665, NA18973, NA18150, NA18638, NA20129, NA20818, NA19007, NA18106, NA19247, NA19657, NA20858, NA20787, NA20524, NA12753, NA12342, NA10863, NA19347, NA19748, NA18991, NA19788, NA19097, NA19776, NA19983, NA18133, NA19000, NA07031, NA20859, NA18499, NA19031, NA18946, NA19001, NA19772, NA18853, NA20282, NA19756, NA19160, NA18536, NA21142, NA20542, NA21521, NA18576, NA19680, NA11882, NA19183, NA18162, NA12864, NA12775, NA07051, NA21616, NA21733, NA21647, NA21517, NA21615, NA19310, NA10861, NA20803, NA19193, NA21094, NA20887, NA21125, NA19790, NA19759, NA19376, NA19438, NA20582, NA19472, NA19173, NA21101, NA12830, NA21486, NA19726, NA17988, NA18696, NA19146, NA20907, NA19046, NA18148, NA10864, NA20882, NA19701, NA20761, NA12842, NA21423, NA20766, NA12286, NA18862, NA18861, NA12273, NA20783, NA18855, NA18935, NA20816, NA20752, NA20802, NA19350, NA18639, NA19359, NA18925, NA20332, NA18124, NA20517, NA20364, NA20356, NA18510, NA12399, NA18627, NA18563, NA19373, NA17986, NA19319, NA17980, NA21520, NA18597, NA21473, NA19307, NA18923, NA19062, NA19457, NA18571, NA21493, NA20287, NA21365, NA19904, NA19130, NA20539, NA19041, NA12275, NA21650, NA21109, NA18154, NA20889, NA18990, NA20342, NA21417, NA21105, NA19027, NA20753, NA21415, NA17998, NA07022, NA19194, NA19161, NA18933, NA19455, NA21300, NA19683, NA18579, NA19103, NA18573, NA11919, NA18156, NA18930, NA20856, NA19154, NA19718, NA18555, NA18974, NA19375, NA21117, NA19309, NA19115, NA19147, NA20276, NA19747, NA20815, NA19072, NA21123, NA20790, NA20792, NA19324, NA19311, NA20544, NA07348, NA21361, NA18501, NA07435, NA21090, NA20849, NA07349, NA20852, NA20510, NA20289, NA11843, NA19116, NA19780, NA19711, NA18872, NA19900, NA20502, NA19430, NA18957, NA21363, NA19463, NA12154, NA21421, NA18740, NA18144, NA19346, NA19214, NA21091, NA18997, NA18120, NA19222, NA19203, NA10845, NA18153, NA19332, NA21519, NA21436, NA21399, NA19795, NA18545, NA12248, NA21741, NA21693, NA18870, NA18967, NA19374, 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NA12272, NA21368, NA20527, NA19835, NA20778, NA17989, NA19679, NA21390, NA19783, NA18610, NA18484, NA20847, NA10843, NA20871, NA21102, NA19716, NA19468, NA19093, NA18636, NA18509, NA20786, NA12875, NA18155, NA19080, NA17972, NA11892, NA19316, NA18968, NA18670, NA12006, NA18623, NA19063, NA20277, NA20908, NA20754, NA19676, NA18620, NA19141, NA11830, NA20543, NA21089, NA20877, NA21620, NA19914, NA20531, NA21092, NA18917, NA18486, NA19393, NA21723, NA20805, NA19777, NA19057, NA18596, NA18125, NA11891, NA12155, NA07357, NA21784, NA19396, NA19381, NA19005, NA19382, NA21600, NA20850, NA20279, NA20586, NA12891, NA21355, NA12348, NA21401, NA18642, NA19088, NA19138, NA21103, NA20288, NA18964, NA19760, NA18611, NA11917, NA18970, NA19383, NA18874, NA21611, NA06984, NA18977, NA21454, NA19917, NA19137, NA19385, NA21632, NA20869, NA20343, NA20845, NA20811, NA19901, NA21442, NA19456, NA18975, NA18640, NA18954, NA21451, NA21494, NA11993, NA21106, NA19714, NA18614, NA18140, NA21599, NA19437, NA21318, NA10836, NA18109, NA18515, NA18529, NA19236, NA20895, NA18516, NA18685, NA18132, NA20126, NA19658, NA18630, NA11839, NA10838, NA21116, NA18566, NA19774, NA19449, NA11894, NA10830, NA19113, NA12827, NA12264, NA18135, NA12817, NA19101, NA10852, NA20534, NA19035, NA19727, NA19094, NA21314, NA21113, NA06995, NA21424, NA20773, NA20522, NA19206, NA12716, NA19321, NA17962, NA10859, NA21311, NA19174, NA19773, NA19380, NA21740, NA19439, NA10840, NA20516, NA07037, NA19085, NA18911, NA06986, NA12708, NA12740, NA20348, NA18971, NA21580, NA21088, NA19060, NA18994, NA17987, NA19096, NA19661, NA21509, NA19755, NA18511, NA21104, NA18562, NA21333 | | Known Genes | RMND5A | | 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) | esv2421358
| | Frequency | | Sample Size | 1184 | | Observed Gain | 0 | | Observed Loss | 1019 | | Observed Complex | 0 | | Frequency | n/a |
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