A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5050140



Internal ID8172522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17481490..17517331hg38UCSC Ensembl
Innerchr5:17481599..17517440hg19UCSC Ensembl
Innerchr5:17534599..17570440hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3835842
hg1935842
hg1835842
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422024
Supporting Variants
SamplesNA19258
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)essv5050140
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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