A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421622



Internal ID7905384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494808..27501613hg38UCSC Ensembl
Innerchr12:27647741..27654546hg19UCSC Ensembl
Innerchr12:27539008..27545813hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386806
hg196806
hg186806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5105919, essv5027949, essv5128716, essv5131761, essv5086256, essv5104343, essv5102333, essv5116296, essv5073812, essv5021541, essv5042739, essv5042846, essv5004940, essv5016296, essv5060871, essv5084094, essv5063228, essv5108290, essv5104454, essv5027018, essv5032282, essv5031433, essv5102357, essv5056677, essv5060194, essv5129354, essv5017372, essv5051392, essv5095544, essv5138244, essv5076085, essv5133737, essv5146411, essv5133669, essv5038983, essv5127741, essv5036361, essv5045280, essv5113512, essv5082960, essv5092989, essv5050112, essv5059175, essv5009415, essv5056988, essv5004962, essv5155170, essv5005055, essv5120965, essv5154978, essv5013678, essv5023678, essv5063851, essv5101740, essv5128475, essv5121485, essv5015285, essv5048354, essv5111026, essv5025774, essv5096324, essv5015348, essv5063356, essv5060053, essv5080783, essv5144330, essv5033228, essv5032246, essv5138712, essv5083418, essv5084878, essv5033403, essv5111395, essv5040258, essv5044931, essv5020686, essv5109058, essv5003872, essv5034000, essv5129261, essv5140242, essv5045236, essv5073077, essv5143895, essv5097654, essv5089450, essv5074583, essv5004865, essv5070311, essv5128421, essv5032555, essv5145897, essv5159979, essv5088087, essv5155427, essv5014889, essv5076676, essv5125357, essv5076649, essv5112405, essv5128576, essv5029217, essv5154574, essv5111318, essv5117597, essv5149766, essv5024196, essv5055748, essv5158000, essv5135326, essv5031551, essv5021446, essv5104696, essv5053199, essv5066277, essv5111308
SamplesNA20281, NA12154, NA19152, NA21142, NA19031, NA19712, NA21441, NA19352, NA20522, NA20890, NA19819, NA21578, NA18933, NA18874, NA19173, NA21599, NA20544, NA18516, NA21435, NA18517, NA19109, NA20778, NA18855, NA19144, NA19651, NA21454, NA19257, NA19108, NA21361, NA19701, NA21489, NA19308, NA19143, NA20340, NA20761, NA20896, NA19161, NA18934, NA19239, NA20819, NA21686, NA21493, NA19199, NA19917, NA21716, NA19197, NA21596, NA20127, NA21359, NA21647, NA19256, NA18916, NA19036, NA12777, NA19918, NA19676, NA21442, NA19360, NA19790, NA19313, NA20128, NA21740, NA19122, NA19653, NA18515, NA19702, NA21333, NA19703, NA19094, NA19375, NA20126, NA12877, NA20345, NA21339, NA18875, NA21112, NA19176, NA21455, NA19708, NA19154, NA21574, NA19705, NA21648, NA10856, NA20766, NA21092, NA20129, NA19789, NA19141, NA19035, NA18857, NA19115, NA12889, NA19123, NA20287, NA19446, NA20300, NA12003, NA20810, NA19041, NA19225, NA18917, NA19224, NA19160, NA20288, NA19315, NA20792, NA11829, NA19171, NA19240, NA20335, NA19113, NA18935, NA20898, NA19468, NA21494
Known GenesSMCO2
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)esv2421622
Frequency
Sample Size1184
Observed Gain0
Observed Loss116
Observed Complex0
Frequencyn/a


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