A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34650



Internal ID12644000
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 StatusM
Merged Variantsdgv149e55
Supporting Variantsessv6978697, essv6988034, essv6978696, essv6978698, essv6989039
SamplesNA12146
Known GenesATP6V1E2, EPAS1, 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)esv34650
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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