A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989039



Internal ID12632288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46378520..46591853hg38UCSC Ensembl
Innerchr2:46605659..46818992hg19UCSC Ensembl
Innerchr2:46459163..46672496hg18UCSC Ensembl
Innerchr2:46517310..46730643hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38213334
hg19213334
hg18213334
hg17213334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34650
Supporting Variants
SamplesNA12146
Known GenesATP6V1E2, EPAS1, LOC100506142, LOC101805491, PIGF, RHOQ, TMEM247
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989039
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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