A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986967



Internal ID12634248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:685389..863682hg38UCSC Ensembl
Innerchr5:685504..863797hg19UCSC Ensembl
Innerchr5:738504..916797hg18UCSC Ensembl
Innerchr5:738504..916797hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38178294
hg19178294
hg18178294
hg17178294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34263
Supporting Variants
SamplesNA18859
Known GenesTPPP, ZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986967
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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