A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984388



Internal ID12976906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19964885hg38UCSC Ensembl
Innerchr14:20203125..20433044hg19UCSC Ensembl
Innerchr14:19272965..19502884hg18UCSC Ensembl
Innerchr14:19272965..19502884hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229920
hg19229920
hg18229920
hg17229920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751262
Supporting Variants
SamplesBEC_699
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)essv6984388
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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