A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751833



Internal ID12638699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164786983..164882983hg38UCSC Ensembl
Innerchr2:165643493..165739493hg19UCSC Ensembl
Innerchr2:165351739..165447739hg18UCSC Ensembl
Innerchr2:165469000..165565000hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3896001
hg1996001
hg1896001
hg1796001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163e55
Supporting Variantsessv6982224, essv6988507, essv6986109
SamplesBEC_404
Known GenesCOBLL1
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)esv2751833
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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