A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980494



Internal ID12635821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:685389..823705hg38UCSC Ensembl
Innerchr5:685504..823820hg19UCSC Ensembl
Innerchr5:738504..876820hg18UCSC Ensembl
Innerchr5:738504..876820hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38138317
hg19138317
hg18138317
hg17138317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34997
Supporting Variants
SamplesNA19202
Known GenesTPPP, ZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980494
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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