A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987026



Internal ID12634702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47365549..47535821hg38UCSC Ensembl
Innerchr16:47399460..47569732hg19UCSC Ensembl
Innerchr16:45956961..46127233hg18UCSC Ensembl
Innerchr16:45956961..46127233hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38170273
hg19170273
hg18170273
hg17170273
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)essv6987026
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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