A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979517



Internal ID12980301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19951771hg38UCSC Ensembl
Innerchr14:20203125..20419930hg19UCSC Ensembl
Innerchr14:19272965..19489770hg18UCSC Ensembl
Innerchr14:19272965..19489770hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38216806
hg19216806
hg18216806
hg17216806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34655
Supporting Variants
SamplesNA18564
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979517
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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