A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34937



Internal ID12644287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46424485..46591447hg38UCSC Ensembl
Innerchr2:46651624..46818586hg19UCSC Ensembl
Innerchr2:46505128..46672090hg18UCSC Ensembl
Innerchr2:46563275..46730237hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38166963
hg19166963
hg18166963
hg17166963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv149e55
Supporting Variantsessv6987297, essv6977962, essv6977961, essv6987296, essv6988987
SamplesNA10847
Known GenesATP6V1E2, LOC100506142, LOC101805491, PIGF, RHOQ, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34937
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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