A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421368



Internal ID8251816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17483929..17517331hg38UCSC Ensembl
Innerchr5:17484038..17517440hg19UCSC Ensembl
Innerchr5:17537038..17570440hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3833403
hg1933403
hg1833403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e195
Supporting Variantsessv5090405, essv5117611, essv5079285, essv5114826, essv5049131, essv5101903, essv5134471, essv5093706, essv5078309, essv5156053, essv5004180, essv5104897, essv5052969, essv5125245, essv5016651, essv5115285, essv5139442, essv5137357, essv5027690, essv5116714, essv5015088, essv5032436, essv5124258, essv5084653, essv5159948
SamplesNA18497, NA19258, NA20300, NA19399, NA19914, NA19122, NA20356, NA18498, NA19917, NA18112, NA19207, NA19036, NA18871, NA20358, NA19208, NA12829, NA18499, NA18912, NA10852, NA19257, NA21379, NA20348, NA18872, NA19044, NA19463
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)esv2421368
Frequency
Sample Size1184
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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