A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34955



Internal ID12644305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64085048..64294156hg38UCSC Ensembl
Innerchr2:64312182..64521290hg19UCSC Ensembl
Innerchr2:64165686..64374794hg18UCSC Ensembl
Innerchr2:64223833..64432941hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38209109
hg19209109
hg18209109
hg17209109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv151e55
Supporting Variantsessv6979141, essv6986794, essv6979142, essv6979143, essv6990331
SamplesNA18500
Known GenesLINC00309, PELI1
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)esv34955
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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