A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421679



Internal ID8252127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47133816..47135062hg38UCSC Ensembl
Innerchr12:47527599..47528845hg19UCSC Ensembl
Innerchr12:45813866..45815112hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5038194, essv5148347, essv5131908, essv5067387, essv5015923, essv5154964, essv5130701, essv5067564, essv5020094, essv5070488, essv5146494, essv5113750, essv5048184, essv5058134, essv5151594, essv5079893, essv5066615, essv5104104, essv5093635, essv5116030, essv5010015, essv5097052, essv5024361, essv5024354, essv5002319, essv5072312, essv5114091, essv5146791, essv5073589, essv5106052, essv5148010, essv5066443, essv5095442, essv5017597, essv5008275, essv5152763, essv5106190, essv5148014, essv5112396, essv5066206, essv5022254, essv5067912, essv5085491, essv5031351, essv5117306, essv5094126, essv5037350, essv5160949, essv5060947, essv5031907, essv5123823, essv5111010, essv5076994, essv5096195, essv5103931, essv5045853, essv5138620, essv5025315, essv5141128, essv5104299, essv5011044, essv5141683, essv5108192, essv5104246, essv5137549, essv5010375, essv5085429, essv5076072, essv5074491, essv5147032, essv5023593, essv5071496, essv5121735, essv5078342, essv5034860, essv5036056, essv5091552, essv5003482, essv5006760, essv5076781, essv5098903, essv5008240, essv5105851, essv5055466, essv5006162, essv5017117, essv5016122, essv5114175, essv5081435, essv5080996, essv5003364, essv5080008, essv5052818, essv5140244, essv5116582, essv5045695, essv5143963, essv5156539, essv5125211, essv5106091, essv5077348, essv5043440, essv5073357, essv5157749, essv5042675, essv5118302, essv5072823, essv5127217, essv5099325, essv5092848, essv5053600
SamplesNA18497, NA19701, NA20290, NA19186, NA21488, NA19249, NA18508, NA12273, NA18641, NA20873, NA18925, NA20332, NA21408, NA20346, NA21301, NA19836, NA12399, NA19127, NA17986, NA21378, NA21473, NA19723, NA19119, NA18923, NA19916, NA11992, NA19457, NA21493, NA21353, NA20287, NA21510, NA18749, NA19651, NA19383, NA20819, NA06984, NA21454, NA19917, NA11994, NA21453, NA19235, NA19702, NA21478, NA19226, NA19796, NA19239, NA18557, NA21344, NA19451, NA18638, NA21494, NA21106, NA21415, NA17976, NA19120, NA21448, NA20297, NA19184, NA20810, NA19103, NA18976, NA18534, NA21366, NA19179, NA21308, NA12386, NA18499, NA19772, NA19101, NA18555, NA19469, NA21309, NA18593, NA12546, NA19375, NA19206, NA19309, NA21719, NA19712, NA19434, NA17962, NA19444, NA19144, NA21768, NA19835, NA21517, NA19439, NA19376, NA21379, NA19248, NA19779, NA19468, NA19474, NA18609, NA18506, NA17987, NA20786, NA19770, NA21614, NA21486, NA21455, NA17981, NA21363, NA19129, NA12890, NA21487, NA20907, NA07000, NA20908, NA10837, NA18487
Known GenesPCED1B
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)esv2421679
Frequency
Sample Size1184
Observed Gain111
Observed Loss0
Observed Complex0
Frequencyn/a


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