A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34847



Internal ID12990883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182672672..182922035hg38UCSC Ensembl
Innerchr2:183537399..183786763hg19UCSC Ensembl
Innerchr2:183245644..183495008hg18UCSC Ensembl
Innerchr2:183362905..183612269hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38249364
hg19249365
hg18249365
hg17249365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985419, essv6980874
SamplesNA19139
Known GenesDNAJC10, FRZB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34847
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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