A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422012



Internal ID8252461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71903417..71915239hg38UCSC Ensembl
Innerchr13:72477555..72489377hg19UCSC Ensembl
Innerchr13:71375556..71387378hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3811823
hg1911823
hg1811823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5019455, essv5122394, essv5083705, essv5053332, essv5022678, essv5146685, essv5104644, essv5061533, essv5033989, essv5039439, essv5013390, essv5106247, essv5119097, essv5013887, essv5110069, essv5154715, essv5050195, essv5155670, essv5086746, essv5111768, essv5026447, essv5007212, essv5086860, essv5036523, essv5025915, essv5103841, essv5043469, essv5014004, essv5024927, essv5037489, essv5087026, essv5046247, essv5007953, essv5151956, essv5019185, essv5120964, essv5112650, essv5154759, essv5135937, essv5131787, essv5122428, essv5081925, essv5114656, essv5023635, essv5101899, essv5114485, essv5021058, essv5068066, essv5059374, essv5151847, essv5076845, essv5120322, essv5033958, essv5098986, essv5053832, essv5017867, essv5092668, essv5003746, essv5129924, essv5060882, essv5011365, essv5102729, essv5080286, essv5060195, essv5100889, essv5065452, essv5147905, essv5087384, essv5008492, essv5030775, essv5127361, essv5022651, essv5137388, essv5132422, essv5036585, essv5115154, essv5045840, essv5160614, essv5033518, essv5004643, essv5065072, essv5048456, essv5141443, essv5090836, essv5159585, essv5104698, essv5113256, essv5130683, essv5043971, essv5015441, essv5074627, essv5063874, essv5127550, essv5118598, essv5049785, essv5031222, essv5004689, essv5080682, essv5103741, essv5089321, essv5044715, essv5094608, essv5143051, essv5032493, essv5019878, essv5130141, essv5079836, essv5059245, essv5003687, essv5056481, essv5017069, essv5127886, essv5068098, essv5065528, essv5151342, essv5140259, essv5106898, essv5151259, essv5039415, essv5157159, essv5060251, essv5082280, essv5021147, essv5123841, essv5134106, essv5101029, essv5159121, essv5089302, essv5083204, essv5121566, essv5030419, essv5151666, essv5118192, essv5040452, essv5157793, essv5146998, essv5149947, essv5105718, essv5103475, essv5156134, essv5144248, essv5011740, essv5066686, essv5042507, essv5095550, essv5006377, essv5052332, essv5103365, essv5091409, essv5081825, essv5044665, essv5038908, essv5006524, essv5112270, essv5120626, essv5097072, essv5145248, essv5056218, essv5086782, essv5052413, essv5084253, essv5019986, essv5118310, essv5136666, essv5067257, essv5044151, essv5107149, essv5083057, essv5043270, essv5149967, essv5126971, essv5007998, essv5074946, essv5149665, essv5006590, essv5147183, essv5119796, essv5080631, essv5091974, essv5117727, essv5104999, essv5064284, essv5074888, essv5114577, essv5037962, essv5048986, essv5002184, essv5016206, essv5029201, essv5100749, essv5011316, essv5104376, essv5048559, essv5057596, essv5073561, essv5146799, essv5129775, essv5111694, essv5046875, essv5148405, essv5146491, essv5034109, essv5072774, essv5140743, essv5085451, essv5049489, essv5139227, essv5106299, essv5070009, essv5011294, essv5003459, essv5124459, essv5137452, essv5045704, essv5062024, essv5116291, essv5005225, essv5029821, essv5068346, essv5144028, essv5038708, essv5146157, essv5100167, essv5041571, essv5110739, essv5076524, essv5065287, essv5042623, essv5133728, essv5073400, essv5041079, essv5043648, essv5020061, essv5009881, essv5105657, essv5071206, essv5143016, essv5020464, essv5072289, essv5125033, essv5054374, essv5102596, essv5160696, essv5069505, essv5032515, essv5028777, essv5034261, essv5007846, essv5045195, essv5133782, essv5156731, essv5023778, essv5101798, essv5018756, essv5035952, essv5156526, essv5053962, essv5020580, essv5108813, essv5049095, essv5033364, essv5017336, essv5108211, essv5093743, essv5087375, essv5116686, essv5003122, essv5099085, essv5159142, essv5021191, essv5044731, essv5023478, essv5141699, essv5090686, essv5032205, essv5031109, essv5082282, essv5110060, essv5139885, essv5142880, essv5112721, essv5127334, essv5150574, essv5091720, essv5090461, essv5105649, essv5109433, essv5154203, essv5072186, essv5138454, essv5041015, essv5072181, essv5075149, essv5077037, essv5047363, essv5011529, essv5113916, essv5116480, essv5146687, essv5047810, essv5042135, essv5133654, essv5074111, essv5034442, essv5113336, essv5156228, essv5066967, essv5086905, essv5138984, essv5020806, essv5138386, essv5035569, essv5093594, essv5032111, essv5088952, essv5060122, essv5146335, essv5049059, essv5047400, essv5132455, essv5132687, essv5045176, essv5012487, essv5088067, essv5021634, essv5014610, essv5003172, essv5040788, essv5020597, essv5160988, essv5135650, essv5008053, essv5081745, essv5088534, essv5041506, essv5116251, essv5150026, essv5140699, essv5119659, essv5042129, essv5139235, essv5122407, essv5092332, essv5090089, essv5076940, essv5068158, essv5132923, essv5122029, essv5002904, essv5146665, essv5061253, essv5078979, essv5096834, essv5146495, essv5133816, essv5143315, essv5117763, essv5069683, essv5159362, essv5152046, essv5131833, essv5077319, essv5115151, essv5086385, essv5094053, essv5098444, essv5118208, essv5055249, essv5106275, essv5146019, essv5116623, essv5129478, essv5054414, essv5148890, essv5159641, essv5062146, essv5023431, essv5123794, essv5029375, essv5047982, essv5107563, essv5149167, essv5111483, essv5125680, essv5063253, essv5033901, essv5064707, essv5011883, essv5050992, essv5016837, essv5052057, essv5062145, essv5037620, essv5064904, essv5042066, essv5116774, essv5087692, essv5077434, essv5148588, essv5019139, essv5048685, essv5097035, essv5138405, essv5053114, essv5021131, essv5131224, essv5154717, essv5024896, essv5136194, essv5076621, essv5019656, essv5060608, essv5097777, essv5120458, essv5087383, essv5026291, essv5008866, essv5049422, essv5112028, essv5092847, essv5146902, essv5112989, essv5066497, essv5032466, essv5005803, essv5100472, essv5045321, essv5027834, essv5129646, essv5094400, essv5057076, essv5153571, essv5089059, essv5108485, essv5057257, essv5150767, essv5123615, essv5135351, essv5121268, essv5142517, essv5069999, essv5116261, essv5160120, essv5122212, essv5108374, essv5158884, essv5154983, essv5053399, essv5078358, essv5048688, essv5112564, essv5116461, essv5101871, essv5064181, essv5007935, essv5073559, essv5103170, essv5129536, essv5160842, essv5095512, essv5141249, essv5015121, essv5047325, essv5035050, essv5053018, essv5124114, essv5149950, essv5103432, essv5140715, essv5069156, essv5054632, essv5061223, essv5022579, essv5081053, essv5111323, essv5127549, essv5125215, essv5004056, essv5062108, essv5048722, essv5028770, essv5106922, essv5121577, essv5020246, essv5067596, essv5018530, essv5104107, essv5057984, essv5073946, essv5144583, essv5092513, essv5024571, essv5071032, essv5155501, essv5082156, essv5031536, essv5154351, essv5103159, essv5082253, essv5040727, essv5137765, essv5006500, essv5055584, essv5040717, essv5093640, essv5131408, essv5151209, essv5144920, essv5016783, essv5011030, essv5051119, essv5062429, essv5086758, essv5058453, essv5089443, essv5072533, essv5044110, essv5074961, essv5102871, essv5029460, essv5005335, essv5149962, essv5101601, essv5044529, essv5040023, essv5131948, essv5067331, essv5076137, essv5029570, essv5009485, essv5022547, essv5145852, essv5052258, essv5120029, essv5103030, essv5069600, essv5047787, essv5132288, essv5121187, essv5052594, essv5146063, essv5070426, essv5017007, essv5052480, essv5030725, essv5135620, essv5040836, essv5018313, essv5116658, essv5101024, essv5044243, essv5037508, essv5041212, essv5034538, essv5125878, essv5115027, essv5051140, essv5085126, essv5060208, essv5059631, essv5117194
SamplesNA20588, NA19028, NA21636, NA21317, NA21111, NA21488, NA20300, NA19399, NA21099, NA21100, NA12843, NA18999, NA12751, NA21457, NA21367, NA12801, NA12146, NA19684, NA21475, NA21738, NA21635, NA12832, NA20359, NA12750, NA20806, NA21776, NA12813, NA19379, NA21378, NA19315, NA21359, NA20589, NA18995, NA12336, NA20756, NA20795, NA18101, NA21297, NA18916, NA11918, NA20768, NA19650, NA19384, NA21613, NA19079, NA20759, NA19720, NA20812, NA18868, NA10850, NA19036, NA21523, NA19239, NA21420, NA21387, NA19985, NA20515, NA19789, NA20755, NA20335, NA19921, NA12777, NA20904, NA21307, NA20535, NA12760, NA12489, NA21414, NA20800, NA21587, NA21596, NA12878, NA19663, NA19176, NA19751, NA12718, NA21631, NA20519, NA18572, NA20876, NA12818, NA19671, NA12829, NA11893, NA21112, NA11840, NA21295, NA19781, NA19059, NA12707, NA18141, NA19452, NA07345, NA21356, NA19682, NA12778, NA10856, NA19625, NA21608, NA20799, NA19652, NA19440, NA12057, NA18628, NA21528, NA20870, NA21685, NA12873, NA20520, NA18128, NA21768, NA19470, NA19428, NA21582, NA20281, NA21388, NA12347, NA19778, NA20897, NA19779, NA18609, NA18138, NA21722, NA21384, NA20826, NA20345, NA19044, NA18624, NA21487, NA21491, NA18147, NA10837, NA19429, NA11832, NA20772, NA19237, NA19700, NA21686, NA17969, NA21477, NA19794, NA19249, NA11995, NA12814, NA20292, NA12767, NA20899, NA19763, NA19122, NA20813, NA12045, NA21717, NA12865, NA19669, NA19836, NA12400, NA12413, NA12341, NA21371, NA18550, NA12812, NA20861, NA18489, NA18595, NA21526, NA20900, NA20769, NA19131, NA19649, NA20540, NA12287, NA19681, NA20336, NA20541, NA12761, NA12282, NA12005, NA21447, NA19651, NA21382, NA21512, NA20349, NA10853, NA21525, NA21453, NA12889, NA12815, NA19159, NA20884, NA19725, NA21601, NA19721, NA19665, NA12828, NA12375, NA19451, NA20129, NA20818, NA19007, NA19247, NA19657, NA20787, NA20524, NA12342, NA19077, NA20809, NA19748, NA19327, NA21439, NA21098, NA20344, NA19776, NA07045, NA07031, NA18499, NA21826, NA19031, NA20881, NA12892, NA19772, NA06985, NA21583, NA19160, NA20542, NA19659, NA21521, NA21573, NA19680, NA11882, NA20801, NA06997, NA11881, NA19834, NA20295, NA12864, NA12775, NA21527, NA19749, NA21517, NA19919, NA21615, NA20504, NA19310, NA10861, NA20803, NA18869, NA21619, NA21513, NA20887, NA19790, NA19759, NA21379, NA21404, NA19472, NA19713, NA12830, NA20807, NA21486, NA21418, NA19726, NA21385, NA07056, NA20907, NA21514, NA21440, NA10864, NA19153, NA20509, NA12739, NA19701, NA20761, NA21524, NA21423, NA19909, NA20766, NA19204, NA18861, NA18508, NA12273, NA20783, NA18855, NA21352, NA12344, NA20816, NA20752, NA20802, NA21301, NA20517, NA21360, NA21522, NA20771, NA18510, NA12399, NA21739, NA19107, NA07346, NA19373, NA18519, NA19319, NA21520, NA10846, NA10854, NA21473, NA20774, NA18923, NA19784, NA21493, NA21353, NA20287, NA21381, NA21365, NA11930, NA19041, NA12275, NA20518, NA21650, NA21529, NA19123, NA12044, NA11994, NA19702, NA19128, NA19722, NA21689, NA20342, NA19708, NA10839, NA21417, NA18704, NA21105, NA20753, NA20301, NA21415, NA17998, NA21313, NA12752, NA21575, NA07022, NA19670, NA19403, NA18117, NA20885, NA19161, NA18933, NA18485, NA21300, NA12877, NA19683, NA18579, NA21366, NA19202, NA20525, NA19654, NA21308, NA11919, NA20866, NA12386, NA20581, NA18156, NA12056, NA18912, NA19154, NA19656, NA19718, NA19099, NA12144, NA19469, NA12546, NA12043, NA20872, NA06991, NA21117, NA19309, NA19390, NA19149, NA19747, NA21576, NA20815, NA12272, NA21368, NA20530, NA20778, NA20902, NA19679, NA19324, NA19311, NA07348, NA19783, NA21361, NA06994, NA07435, NA20847, NA07349, NA21102, NA19716, NA19468, NA20852, NA19093, NA20510, NA18509, NA11843, NA20758, NA19780, NA19900, NA20502, NA21363, NA11892, NA19316, NA12890, NA12006, NA19463, NA12154, NA21421, NA20277, NA20754, NA20350, NA19676, NA11830, NA21097, NA20543, NA21383, NA20877, NA21577, NA18153, NA19914, NA21436, NA20531, NA21399, NA21092, NA07029, NA21648, NA20805, NA19777, NA21386, NA12248, NA21741, NA21693, NA11891, NA18870, NA07357, NA20846, NA19374, NA20796, NA21405, NA19201, NA21600, NA19762, NA19448, NA19902, NA20586, NA12891, NA12348, NA21401, NA18642, NA19771, NA19138, NA19782, NA06993, NA21370, NA19760, NA18611, NA21402, NA19180, NA21611, NA20819, NA06984, NA18977, NA19137, NA19677, NA19385, NA21478, NA20869, NA20845, NA20811, NA10855, NA21634, NA21442, NA19445, NA19200, NA21494, NA11993, NA21106, NA18140, NA11831, NA10847, NA21599, NA20854, NA18934, NA21682, NA10836, NA12343, NA20505, NA19236, NA20895, NA20506, NA12376, NA10838, NA21485, NA21116, NA19179, NA21441, NA20337, NA19114, NA19774, NA19449, NA21141, NA17967, NA10830, NA20538, NA21578, NA12827, NA10852, NA12766, NA19095, NA20534, NA19675, NA20765, NA19035, NA21302, NA19727, NA21314, NA18914, NA06995, NA21424, NA20773, NA20522, NA12716, NA18909, NA19321, NA10859, NA21311, NA19435, NA21425, NA19380, NA19439, NA20516, NA20797, NA12874, NA07055, NA18911, NA06986, NA12708, NA12740, NA20348, NA21580, NA21088, NA20334, NA21312, NA20528, NA21389, NA19661, NA21490, NA18488, NA19775, NA19139, NA18511, NA07000, NA21104, NA20363, NA18622, NA18965
Known Genes
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)esv2422012
Frequency
Sample Size1184
Observed Gain0
Observed Loss561
Observed Complex0
Frequencyn/a


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