A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34394



Internal ID12990433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19987148hg38UCSC Ensembl
Innerchr14:20203125..20455307hg19UCSC Ensembl
Innerchr14:19272965..19525147hg18UCSC Ensembl
Innerchr14:19272965..19525147hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38252183
hg19252183
hg18252183
hg17252183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6978283, essv6978282
SamplesNA18997
Known GenesOR4K1, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34394
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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