A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421478



Internal ID8251926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:33560672..33569310hg38UCSC Ensembl
Innerchr13:34134809..34143447hg19UCSC Ensembl
Innerchr13:33032809..33041447hg18UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg388639
hg198639
hg188639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5095216, essv5136412, essv5053195, essv5122462, essv5024458, essv5031200, essv5119329, essv5111548, essv5157221, essv5144711, essv5138918, essv5055536, essv5052465, essv5155475, essv5093397, essv5083933, essv5159799, essv5071051, essv5030037, essv5039527, essv5050911, essv5112763, essv5035560, essv5133802, essv5098432, essv5049656, essv5123525, essv5101714, essv5131873, essv5104938, essv5023501, essv5059946, essv5036580, essv5119115, essv5108352, essv5073339, essv5156815, essv5037687, essv5139800, essv5047725, essv5117845, essv5028252, essv5032565, essv5135431, essv5010203, essv5017526, essv5088549, essv5036724, essv5130983, essv5152786, essv5098141, essv5062935, essv5010355, essv5100571, essv5093736, essv5114818, essv5055484, essv5054934, essv5025990, essv5026601, essv5076690, essv5014345, essv5042036, essv5126960, essv5029851, essv5111442, essv5077682, essv5114055, essv5111185, essv5113650, essv5074112, essv5142255, essv5012762, essv5068087, essv5081105, essv5089778, essv5074411, essv5050415, essv5157447, essv5068537, essv5061950, essv5066789, essv5073531, essv5018758, essv5007389, essv5022822, essv5041022, essv5124624, essv5123631, essv5148936, essv5119719, essv5067725, essv5097856, essv5017223, essv5150884, essv5107952, essv5120241, essv5069513, essv5137526, essv5008008, essv5014069, essv5019267, essv5100789, essv5123775, essv5091368, essv5122254, essv5108766, essv5024973, essv5132063, essv5146937, essv5018670, essv5061666, essv5032113, essv5142108, essv5129343, essv5061592, essv5082382, essv5023145, essv5105357, essv5052750, essv5090151, essv5066414, essv5047544, essv5042900, essv5077495, essv5160680, essv5096335, essv5011464, essv5037815, essv5130512, essv5118666, essv5095250, essv5009349, essv5030070, essv5056014, essv5051092, essv5062776, essv5104880, essv5092190, essv5106677, essv5003445, essv5144624, essv5098591, essv5055476, essv5011461, essv5004245, essv5060468, essv5014125, essv5086101, essv5121928, essv5065179, essv5022245, essv5017468, essv5031690, essv5066572, essv5086139, essv5020722, essv5160546, essv5013479, essv5006669, essv5046496, essv5111409, essv5015903, essv5072046, essv5064024, essv5097346, essv5136109, essv5081502, essv5039830, essv5015077, essv5076999, essv5066783, essv5032162, essv5081768, essv5020684, essv5065455, essv5098680, essv5029745, essv5136097, essv5094252, essv5104896, essv5096974, essv5101460, essv5014026, essv5072636, essv5158664, essv5087924, essv5119006, essv5006626, essv5017173, essv5054991, essv5031531, essv5148990, essv5124797, essv5013357, essv5028340, essv5005918, essv5155615, essv5125081, essv5048274, essv5086937, essv5133098, essv5026590, essv5007491, essv5045528, essv5005786, essv5079843, essv5134488, essv5144397, essv5124751, essv5096447, essv5044157, essv5055958, essv5110995, essv5113132, essv5074803, essv5098969, essv5077236, essv5005403, essv5143419, essv5127010, essv5084353, essv5068181, essv5142526, essv5055285, essv5018068, essv5150035, essv5043938, essv5075715, essv5059527, essv5022826, essv5137867, essv5138393, essv5069981, essv5015510, essv5048550, essv5012783, essv5130932, essv5003250, essv5106198, essv5136038, essv5110418
SamplesNA19258, NA20882, NA20529, NA20891, NA18862, NA12273, NA18524, NA21099, NA11920, NA17968, NA12751, NA17990, NA19377, NA18959, NA20517, NA21635, NA18152, NA18633, NA21522, NA20359, NA18510, NA12399, NA20806, NA18602, NA19379, NA10835, NA10846, NA21359, NA20589, NA18995, NA18993, NA18558, NA18618, NA19650, NA18571, NA21108, NA20287, NA19130, NA19079, NA12275, NA20518, NA20812, NA07014, NA19215, NA18160, NA18748, NA17996, NA10850, NA17993, NA18154, NA20889, NA19796, NA20342, NA21420, NA19789, NA18129, NA20755, NA20360, NA12777, NA21307, NA17976, NA20800, NA12752, NA21587, NA19670, NA20810, NA19663, NA21300, NA18534, NA21617, NA19064, NA19654, NA12818, NA12386, NA18626, NA17999, NA21295, NA12056, NA19781, NA18912, NA18857, NA19656, NA19099, NA19682, NA12144, NA19318, NA12778, NA18593, NA12546, NA12043, NA20851, NA18146, NA06991, NA19309, NA19115, NA19747, NA21528, NA12272, NA20870, NA19010, NA20902, NA20281, NA12763, NA20888, NA20897, NA10843, NA20849, NA19779, NA18134, NA21102, NA18636, NA18509, NA18138, NA19080, NA18872, NA19900, NA19121, NA20502, NA18957, NA19063, NA12154, NA18147, NA18144, NA10837, NA19214, NA19431, NA21091, NA20772, NA18143, NA18998, NA20284, NA19222, NA21097, NA18157, NA19794, NA21089, NA18153, NA12767, NA18166, NA18561, NA21399, NA19057, NA18870, NA19076, NA21371, NA18944, NA20861, NA18489, NA21600, NA20850, NA20279, NA18635, NA20900, NA18105, NA18942, NA19649, NA21401, NA12283, NA18161, NA12287, NA18498, NA20288, NA18964, NA06993, NA21510, NA21370, NA19038, NA21402, NA12282, NA20349, NA19719, NA20340, NA19471, NA20845, NA19007, NA18544, NA10836, NA18109, NA18859, NA19327, NA18991, NA18529, NA18939, NA18685, NA12376, NA19658, NA18976, NA18503, NA20770, NA19221, NA18133, NA20337, NA19114, NA19774, NA07031, NA11894, NA19031, NA12249, NA18946, NA19001, NA18853, NA18135, NA19257, NA18945, NA18576, NA20765, NA21573, NA20773, NA18162, NA18961, NA18952, NA20804, NA07051, NA20504, NA19310, NA18643, NA12874, NA07037, NA19790, NA18594, NA12708, NA19398, NA12740, NA18971, NA19438, NA21404, NA18994, NA12830, NA17987, NA18552, NA19757, NA18505, NA17981, NA19755, NA19146, NA19775, NA20322, NA19148, NA20907, NA12776, NA18965, NA20509
Known GenesSTARD13
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)esv2421478
Frequency
Sample Size1184
Observed Gain0
Observed Loss242
Observed Complex0
Frequencyn/a


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