A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990452



Internal ID12634704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47365588..47535788hg38UCSC Ensembl
Innerchr16:47399499..47569699hg19UCSC Ensembl
Innerchr16:45957000..46127200hg18UCSC Ensembl
Innerchr16:45957000..46127200hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38170201
hg19170201
hg18170201
hg17170201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34317
Supporting Variants
SamplesNA18967
Known GenesITFG1, PHKB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990452
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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