A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987296



Internal ID12631714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46424485..46512544hg38UCSC Ensembl
Innerchr2:46651624..46739683hg19UCSC Ensembl
Innerchr2:46505128..46593187hg18UCSC Ensembl
Innerchr2:46563275..46651334hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3888060
hg1988060
hg1888060
hg1788060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34937
Supporting Variants
SamplesNA10847
Known GenesATP6V1E2, LOC101805491, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987296
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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