A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983518



Internal ID12976422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19798901..19918401hg38UCSC Ensembl
Innerchr14:20267060..20386560hg19UCSC Ensembl
Innerchr14:19336900..19456400hg18UCSC Ensembl
Innerchr14:19336900..19456400hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38119501
hg19119501
hg18119501
hg17119501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751180
Supporting Variants
SamplesBEC_665
Known GenesOR4K2, OR4N2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983518
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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