A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5069103



Internal ID7812961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15668643..15719658hg38UCSC Ensembl
Innerchr19:15779453..15830468hg19UCSC Ensembl
Innerchr19:15640453..15691468hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3851016
hg1951016
hg1851016
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421519
Supporting Variants
SamplesNA19247
Known GenesCYP4F12
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)essv5069103
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer