A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751836



Internal ID12985388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18147073..18178962hg38UCSC Ensembl
Innerchr2:18328339..18360228hg19UCSC Ensembl
Innerchr2:18191820..18223709hg18UCSC Ensembl
Innerchr2:18249967..18281856hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3831890
hg1931890
hg1831890
hg1731890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985626, essv6981648
SamplesBEC_311
Known Genes
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)esv2751836
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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