A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979762



Internal ID12634015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232346785..232441785hg38UCSC Ensembl
Innerchr2:233211495..233306495hg19UCSC Ensembl
Innerchr2:232919739..233014739hg18UCSC Ensembl
Innerchr2:233037000..233132000hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3895001
hg1995001
hg1895001
hg1795001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34493
Supporting Variants
SamplesNA18622
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979762
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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