A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751834



Internal ID12985386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18135375..18160606hg38UCSC Ensembl
Innerchr2:18316641..18341872hg19UCSC Ensembl
Innerchr2:18180122..18205353hg18UCSC Ensembl
Innerchr2:18238269..18263500hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3825232
hg1925232
hg1825232
hg1725232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984735, essv6988842
SamplesSPC_171
Known Genes
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)esv2751834
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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