A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5025764



Internal ID8219534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2629667..2691811hg38UCSC Ensembl
Innerchr16:2679668..2741812hg19UCSC Ensembl
Innerchr16:2619669..2681813hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3862145
hg1962145
hg1862145
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421848
Supporting Variants
SamplesNA20874
Known GenesERVK13-1, FLJ42627, KCTD5, LOC652276
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)essv5025764
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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