A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979761



Internal ID12634019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232306777..232441701hg38UCSC Ensembl
Innerchr2:233171487..233306411hg19UCSC Ensembl
Innerchr2:232879731..233014655hg18UCSC Ensembl
Innerchr2:232996992..233131916hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38134925
hg19134925
hg18134925
hg17134925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34493
Supporting Variants
SamplesNA18622
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979761
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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