A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978980



Internal ID12979420
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 StatusS
Merged Variantsesv34552
Supporting Variants
SamplesNA12813
Known GenesLOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978980
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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