A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988034



Internal ID12632289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46424510..46512510hg38UCSC Ensembl
Innerchr2:46651649..46739649hg19UCSC Ensembl
Innerchr2:46505153..46593153hg18UCSC Ensembl
Innerchr2:46563300..46651300hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3888001
hg1988001
hg1888001
hg1788001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34650
Supporting Variants
SamplesNA12146
Known GenesATP6V1E2, LOC101805491, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988034
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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