A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34981



Internal ID12991017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10201342..10244176hg38UCSC Ensembl
Innerchr2:10341468..10384302hg19UCSC Ensembl
Innerchr2:10258919..10301753hg18UCSC Ensembl
Innerchr2:10292066..10334900hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3842835
hg1942835
hg1842835
hg1742835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv146e55
Supporting Variantsessv6986665, essv6978625
SamplesNA12043
Known GenesC2orf48
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34981
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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