A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979786



Internal ID12980742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79856062..79889413hg38UCSC Ensembl
Innerchr16:79889959..79923310hg19UCSC Ensembl
Innerchr16:78447460..78480811hg18UCSC Ensembl
Innerchr16:78447460..78480811hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3833352
hg1933352
hg1833352
hg1733352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34919
Supporting Variants
SamplesNA18632
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979786
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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