A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34552



Internal ID12990589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233128..35499528hg38UCSC Ensembl
Innerchr16:34467499..34733899hg19UCSC Ensembl
Innerchr16:34325000..34591400hg18UCSC Ensembl
Innerchr16:34325000..34591400hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38266401
hg19266401
hg18266401
hg17266401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6986759, essv6978980, essv6978981
SamplesNA12813
Known GenesLOC146481, LOC283914
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)esv34552
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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