A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986934



Internal ID12634022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232347151..232447741hg38UCSC Ensembl
Innerchr2:233211861..233312451hg19UCSC Ensembl
Innerchr2:232920105..233020695hg18UCSC Ensembl
Innerchr2:233037366..233137956hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38100591
hg19100591
hg18100591
hg17100591
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)essv6986934
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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