A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980023



Internal ID12981137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67046417..67075617hg38UCSC Ensembl
Innerchr2:67273549..67302749hg19UCSC Ensembl
Innerchr2:67127053..67156253hg18UCSC Ensembl
Innerchr2:67185200..67214400hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3829201
hg1929201
hg1829201
hg1729201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34381
Supporting Variants
SamplesNA18940
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980023
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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