A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421821



Internal ID7905583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550456..43552931hg38UCSC Ensembl
Innerchr21:44970337..44972812hg19UCSC Ensembl
Innerchr21:43794765..43797240hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382476
hg192476
hg182476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5072975, essv5073119, essv5060987, essv5039978, essv5050045, essv5124322, essv5058997, essv5145207, essv5031195, essv5059461, essv5072497, essv5094776, essv5115015, essv5007920, essv5032476, essv5056806, essv5086011, essv5148323, essv5060048, essv5008282, essv5139307, essv5115862, essv5113333, essv5098331, essv5105827, essv5087267, essv5016751, essv5032396, essv5103734, essv5109275, essv5061355, essv5025306, essv5018366, essv5132287, essv5145719, essv5048627, essv5062093, essv5124186, essv5003538, essv5008662, essv5003725, essv5029947, essv5038031, essv5141064, essv5086189, essv5074047, essv5145836, essv5116834, essv5026451, essv5058346, essv5050619, essv5143652, essv5030043, essv5030543, essv5119783, essv5110180, essv5135472, essv5007862, essv5061523, essv5121332, essv5014824, essv5045281, essv5090803, essv5111125, essv5141494, essv5003780, essv5015507, essv5125101, essv5050614, essv5042818, essv5112807, essv5048070, essv5113119, essv5096089, essv5136135, essv5013812, essv5112343, essv5071230, essv5023703, essv5071548, essv5085171, essv5106673, essv5121248, essv5076904, essv5129776, essv5048539, essv5074738, essv5035474, essv5098628, essv5009152, essv5014303, essv5036060, essv5007799, essv5130005, essv5131621, essv5118374, essv5149699, essv5158106, essv5106713, essv5054145, essv5108307, essv5152065, essv5130010, essv5153367, essv5005034, essv5115500, essv5115378, essv5147410, essv5094658, essv5135824, essv5043014, essv5144954, essv5110764, essv5005927, essv5146255, essv5039308, essv5024551, essv5032422, essv5046848, essv5102600, essv5002205, essv5080887, essv5136414, essv5045863, essv5132207, essv5108731, essv5138816, essv5009807, essv5050785, essv5160559, essv5055784, essv5102845, essv5011893, essv5079942, essv5092757, essv5094609, essv5156472, essv5040843, essv5130127, essv5014956, essv5142215, essv5118339, essv5039676, essv5018339, essv5057780, essv5131201, essv5074532, essv5113942, essv5012218, essv5071380, essv5105464, essv5141795, essv5082478, essv5098172, essv5115082, essv5018907, essv5114806, essv5160527, essv5009106, essv5051149, essv5063127, essv5147889, essv5004564, essv5024249, essv5081773, essv5085585, essv5111551, essv5134598, essv5043253, essv5121858, essv5010368, essv5060631, essv5015796, essv5071630, essv5117096, essv5079504, essv5017368, essv5048936, essv5002212, essv5105712, essv5058184, essv5104213, essv5085389, essv5127282, essv5062235, essv5122751, essv5029157, essv5024376, essv5035508, essv5088009, essv5113870, essv5151671, essv5034869, essv5028331, essv5114923, essv5010895, essv5046678, essv5141583, essv5034255, essv5056929, essv5126909, essv5137386, essv5065049, essv5018909, essv5073711, essv5083916, essv5146510, essv5108006, essv5110293, essv5138202, essv5034843, essv5082965, essv5143697, essv5103964, essv5060371, essv5158267, essv5078354, essv5115368, essv5030572, essv5084059, essv5110521, essv5115510, essv5157123, essv5015643, essv5035561, essv5056650, essv5146058, essv5147817, essv5035475, essv5099055, essv5126404, essv5038466, essv5031324, essv5086590, essv5091928, essv5032433, essv5055115, essv5054635, essv5067222, essv5106835, essv5027583, essv5028346, essv5044546, essv5110924, essv5105519, essv5147210, essv5083327, essv5075951, essv5094420, essv5158170, essv5051009, essv5040516, essv5146654, essv5049626, essv5049195, essv5018443, essv5031743, essv5141680, essv5037805, essv5152557, essv5088274, essv5106964, essv5020778, essv5120519, essv5058016, essv5015612, essv5075680, essv5118688, essv5011271, essv5054159, essv5038191, essv5111844, essv5013540, essv5030518, essv5038629, essv5106387, essv5024136, essv5003500, essv5147070, essv5113807, essv5033414, essv5021072, essv5070481, essv5106250, essv5013522, essv5025098, essv5050309, essv5100344, essv5104574, essv5115928, essv5016020, essv5140472, essv5114235, essv5109091, essv5025622, essv5109778, essv5160979, essv5044791, essv5122499, essv5025766, essv5037233, essv5089453, essv5105840, essv5020962, essv5098168, essv5039882, essv5102404, essv5006823, essv5024644, essv5058741, essv5011193, essv5069988, essv5017659, essv5114390, essv5061008, essv5102047, essv5002401, essv5012911, essv5042162, essv5125224, essv5082768, essv5094080, essv5117386, essv5139697, essv5101121, essv5121861, essv5074546, essv5059041, essv5130765, essv5022591, essv5066656, essv5095003, essv5103503, essv5021510, essv5114169, essv5035147, essv5071640, essv5030438, essv5007565, essv5073051, essv5085275, essv5020835, essv5027634, essv5083493, essv5140115, essv5158790, essv5123417, essv5018815, essv5135923, essv5056451, essv5090962, essv5099782, essv5120256, essv5135719, essv5084102, essv5132394, essv5131480, essv5147840, essv5081939, essv5093001, essv5050865, essv5069100, essv5123361, essv5066871, essv5056995, essv5084900, essv5105577, essv5049706, essv5114414, essv5045737, essv5045757, essv5147306, essv5070803, essv5052669, essv5113956, essv5141491, essv5092730, essv5121607, essv5020541, essv5137864, essv5045475, essv5039686, essv5075063, essv5135161, essv5018929, essv5005581, essv5032737, essv5084314, essv5106652, essv5024024, essv5120234, essv5008212, essv5043814, essv5022922, essv5061842, essv5037590, essv5135373, essv5032253, essv5111019, essv5080811, essv5010592, essv5132814, essv5136516, essv5035412, essv5052247, essv5012353, essv5130545, essv5153441, essv5006306, essv5037288, essv5099895, essv5138404, essv5142003, essv5149427, essv5152611, essv5014923, essv5133369, essv5080394, essv5003758, essv5120163, essv5138221, essv5051585, essv5131128, essv5037896, essv5081055, essv5026456, essv5002235, essv5025869, essv5058598, essv5007559, essv5061858, essv5008846, essv5042309, essv5006120, essv5088020, essv5022252, essv5074073, essv5124177, essv5127250, essv5104752, essv5130162, essv5019188, essv5066767, essv5082524, essv5159559, essv5035581, essv5037463, essv5097029, essv5017440, essv5126119, essv5043887, essv5006230, essv5015366, essv5054603, essv5113106, essv5011100, essv5012711, essv5021833, essv5095193, essv5114107, essv5027148, essv5013510, essv5067726, essv5115215, essv5056416, essv5102783, essv5140239, essv5149324, essv5005509, essv5008678, essv5127921, essv5112974, essv5135494, essv5021247, essv5039493, essv5119775, essv5034969, essv5158384, essv5012618, essv5066716, essv5078542, essv5154293, essv5027255, essv5053211, essv5094110, essv5154327, essv5043881, essv5096139, essv5138729, essv5153809, essv5139577, essv5035891, essv5036073, essv5157293, essv5145199, essv5148318, essv5157711, essv5096847, essv5032722, essv5070648, essv5088385, essv5123855, essv5094560, essv5126491, essv5002399, essv5017233, essv5107398, essv5129350, essv5149977, essv5159044, essv5067826, essv5010724, essv5068107, essv5088890, essv5104232, essv5114484, essv5121518, essv5154371, essv5016604, essv5129562, essv5075671, essv5022421, essv5154343, essv5042787, essv5118504, essv5053561, essv5064234, essv5075691, essv5126688, essv5116670, essv5149204, essv5043443, essv5138758, essv5025758, essv5045878, essv5101694, essv5122968, essv5027783, essv5077328, essv5146173, essv5147949, essv5020280, essv5092517, essv5125754, essv5111757, essv5114471, essv5146709, essv5148002, essv5008278, essv5121823, essv5126742, essv5151043, essv5107321, essv5033614, essv5037890, essv5076321, essv5132365, essv5011960, essv5034979, essv5136076, essv5081726, essv5006892, essv5152282, essv5051197, essv5151140, essv5055279, essv5044120, essv5060512, essv5070763, essv5130889, essv5050513, essv5150149, essv5073081, essv5122361, essv5114456, essv5128214, essv5155180, essv5152677, essv5122172, essv5065712, essv5150456, essv5071557, essv5108443, essv5154552, essv5019142, essv5028057, essv5065780, essv5154929, essv5144801, essv5069857, essv5123540, essv5017837, essv5109036, essv5016308, essv5135251, essv5024637, essv5129184, essv5079631, essv5110660, essv5129779, essv5091770, essv5148357, essv5042852, essv5003380, essv5055540, essv5064916, essv5076449, essv5088567, essv5111251, essv5125275, essv5112383, essv5039866, essv5092994, essv5038707, essv5127067, essv5084356, essv5080331, essv5158530, essv5013406, essv5063010, essv5067061, essv5030094, essv5029129, essv5110019, essv5017471, essv5010242, essv5062405, essv5107173, essv5063557, essv5136521, essv5058969, essv5107052, essv5018413, essv5076399, essv5149081, essv5114197, essv5030052, essv5083882, essv5088630, essv5123854, essv5084695, essv5092654, essv5021479, essv5042991, essv5093070, essv5099312, essv5056621, essv5109047, essv5003821, essv5056646, essv5084398, essv5105292, essv5106255, essv5038583, essv5049948, essv5109814, essv5140199, essv5090724, essv5141087, essv5059460, essv5146815, essv5153046, essv5125730, essv5021512, essv5042472, essv5159403, essv5159725, essv5028448, essv5116361, essv5143488, essv5129893, essv5016589, essv5038990, essv5049769, essv5137820, essv5088725, essv5157156, essv5152171, essv5031256, essv5052262, essv5056943, essv5135160, essv5034246, essv5128820, essv5134769, essv5058597, essv5083498, essv5069897, essv5152595, essv5050200, essv5001987, essv5038224, essv5026414, essv5099208, essv5014841, essv5025686, essv5078949, essv5112163, essv5127581, essv5002438, essv5052080, essv5120456, essv5021394, essv5092232, essv5039114, essv5054470, essv5041912, essv5127998, essv5050549, essv5113104, essv5154135, essv5142614, essv5022344, essv5035916, essv5112093, essv5043564, essv5079782, essv5081550, essv5077633, essv5035318, essv5111861, essv5036389, essv5065884, essv5143577, essv5130896, essv5003198, essv5123527, essv5090453, essv5069166, essv5120619, essv5113872, essv5151529, essv5117208, essv5101923, essv5126314, essv5075041, essv5093827, essv5148573, essv5084538, essv5085852, essv5133134, essv5141009, essv5125309, essv5072943, essv5078518, essv5147147, essv5118946, essv5014608, essv5063531, essv5010081, essv5009825, essv5093629, essv5063252, essv5122565, essv5054555, essv5077837, essv5116181, essv5044711, essv5159067, essv5026914, essv5053206, essv5087310, essv5006560, essv5135713, essv5025833, essv5051650, essv5147271, essv5082840, essv5131452, essv5019390, essv5115445, essv5138189, essv5104676, essv5047816, essv5123118, essv5157619, essv5015789, essv5024193, essv5014780, essv5074199, essv5142430, essv5105161, essv5055674, essv5085256, essv5117028, essv5149488, essv5106461, essv5086225, essv5111048, essv5090881, essv5148828, essv5014612, essv5158217, essv5025968, essv5063227, essv5130522, essv5051215, essv5002737, essv5031586, essv5114215, essv5079531, essv5098404, essv5117436, essv5059471, essv5134313, essv5029600, essv5118731, essv5033597, essv5008198, essv5075712, essv5115181, essv5159533, essv5091494, essv5028099, essv5030692, essv5066643, essv5041229, essv5138972, essv5020079, essv5153209, essv5077853, essv5152416, essv5100354, essv5097969, essv5038771, essv5002414, essv5009020, essv5055275, essv5043802, essv5064856, essv5014584, essv5147381, essv5020028, essv5119145, essv5061756, essv5146332, essv5040759, essv5132286, essv5050007, essv5136295, essv5125239, essv5160761, essv5015196, essv5013585, essv5130205, essv5033471, essv5014247, essv5098705, essv5028650, essv5034582, essv5093045, essv5160000, essv5040609, essv5047867, essv5160973, essv5016646, essv5049808, essv5014649, essv5040828, essv5039958, essv5055774, essv5024358, essv5086876, essv5034013, essv5160121, essv5037887, essv5128007, essv5015228, essv5097861, essv5085123, essv5145100, essv5105563, essv5141441, essv5020509, essv5104526, essv5028786, essv5046206, essv5116935, essv5149560, essv5104067, essv5009896, essv5122623, essv5152404, essv5012455, essv5096854, essv5118346, essv5050121, essv5114302, essv5054773, essv5078734, essv5119697, essv5102659, essv5116379, essv5098020, essv5136784, essv5146541, essv5011843, essv5077413, essv5100686, essv5102808, essv5119443, essv5081233, essv5147328, essv5152498, essv5145930, essv5077570, essv5043068, essv5074926, essv5081150, essv5127043, essv5018760, essv5098868, essv5112462, essv5110791, essv5042946, essv5074987, essv5021802, essv5003592, essv5036420, essv5052426, essv5081460, essv5051275, essv5005801, essv5102408, essv5057695, essv5012242, essv5049040, essv5157893, essv5071324, essv5157173, essv5135228, essv5041425, essv5079999, essv5017333, essv5137084, essv5128613, essv5041949, essv5033098, essv5065216, essv5123374, essv5147715, essv5004029, essv5148454, essv5097848, essv5079921, essv5099935, essv5103646, essv5117859, essv5148245, essv5073741, essv5082402, essv5107489, essv5069858, essv5077061, essv5077716, essv5152474, essv5041078, essv5004017, essv5145276, essv5078039, essv5147624, essv5143006, essv5110269, essv5007587, essv5058528, essv5159755, essv5154030, essv5156285, essv5136285, essv5028843, essv5113502, essv5130266
SamplesNA10859, NA18642, NA17989, NA18503, NA21634, NA19207, NA18870, NA19248, NA20876, NA12154, NA12818, NA21723, NA21512, NA17999, NA18160, NA19757, NA18951, NA19192, NA18914, NA21631, NA18871, NA19665, NA20907, NA12286, NA19081, NA07349, NA20752, NA21320, NA18757, NA21447, NA12347, NA19093, NA19120, NA19178, NA20796, NA19311, NA11918, NA19469, NA20346, NA21685, NA17982, NA19223, NA19435, NA21718, NA18516, NA12707, NA19334, NA19788, NA20800, NA17981, NA18953, NA18517, NA18947, NA19109, NA21825, NA18161, NA20894, NA17969, NA19775, NA19144, NA18546, NA07348, NA10853, NA18507, NA19760, NA10855, NA21357, NA21425, NA20805, NA19685, NA11891, NA19257, NA20845, NA21312, NA20861, NA21361, NA18156, NA19701, NA19180, NA19236, NA18505, NA19151, NA19208, NA20803, NA18862, NA21384, NA18868, NA18139, NA19140, NA21090, NA20505, NA11919, NA12763, NA19211, NA19239, NA19650, NA18627, NA11840, NA19076, NA18114, NA18154, NA19199, NA18635, NA19675, NA19197, NA19443, NA18623, NA19471, NA19107, NA19444, NA18990, NA18143, NA18636, NA18592, NA19083, NA19088, NA19096, NA21363, NA12273, NA12761, NA19429, NA18959, NA18609, NA21647, NA11843, NA17977, NA19985, NA18485, NA12400, NA18637, NA20520, NA18593, NA19181, NA21408, NA21451, NA19457, NA12234, NA19086, NA12144, NA20847, NA19190, NA21491, NA19000, NA19055, NA21442, NA19721, NA18144, NA19725, NA20128, NA12239, NA18149, NA18640, NA18696, NA18515, NA19189, NA17966, NA19372, NA18633, NA19680, NA20760, NA21316, NA12778, NA12348, NA12877, NA19716, NA21339, NA19102, NA20884, NA12275, NA18510, NA18674, NA21379, NA19215, NA21689, NA18106, NA19002, NA19154, NA21382, NA19139, NA21485, NA19763, NA11892, NA18925, NA19001, NA20290, NA20542, NA10836, NA20766, NA18136, NA18910, NA21092, NA19711, NA18940, NA21101, NA18619, NA12890, NA12146, NA19921, NA21378, NA19376, NA21632, NA19794, NA21682, NA20911, NA19035, NA19723, NA20276, NA20302, NA06991, NA18740, NA19128, NA12812, NA18857, NA20850, NA17975, NA21509, NA19116, NA21360, NA20289, NA20287, NA19097, NA19132, NA21383, NA19755, NA19818, NA21086, NA21089, NA21362, NA18548, NA20810, NA17976, NA18944, NA18689, NA20869, NA18924, NA19198, NA18610, NA20758, NA21597, NA20872, NA12045, NA10840, NA11829, NA19130, NA19240, NA21719, NA21355, NA20804, NA18555, NA19385, NA21573, NA19779, NA19659, NA21494, NA21768, NA10854, NA10861, NA21526, NA07435, NA20281, NA19137, NA19183, NA10831, NA12827, NA19714, NA18964, NA12043, NA19625, NA19796, NA18861, NA19352, NA21490, NA12344, NA18158, NA21125, NA07037, NA19321, NA21524, NA20349, NA20859, NA20866, NA20506, NA18117, NA18952, NA18975, NA21517, NA18874, NA19173, NA18148, NA21599, NA18612, NA20343, NA21307, NA20508, NA18550, NA19455, NA18639, NA20802, NA20881, NA20775, NA18948, NA19430, NA11931, NA19317, NA20808, NA19751, NA21118, NA18969, NA18972, NA19010, NA20342, NA18573, NA20778, NA20786, NA18542, NA19184, NA19782, NA21371, NA18702, NA21098, NA18484, NA19834, NA19983, NA20588, NA20363, NA19656, NA19678, NA21457, NA21295, NA17979, NA18704, NA19780, 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Known GenesHSF2BP
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421821
Frequency
Sample Size1184
Observed Gain0
Observed Loss972
Observed Complex0
Frequencyn/a


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