A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987472



Internal ID12977523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19798901..19957801hg38UCSC Ensembl
Innerchr14:20267060..20425960hg19UCSC Ensembl
Innerchr14:19336900..19495800hg18UCSC Ensembl
Innerchr14:19336900..19495800hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38158901
hg19158901
hg18158901
hg17158901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751220
Supporting Variants
SamplesBEC_742
Known GenesOR4K1, OR4K2, OR4K5, OR4N2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987472
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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