A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34398



Internal ID12990437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19958545hg38UCSC Ensembl
Innerchr14:20203125..20426704hg19UCSC Ensembl
Innerchr14:19272965..19496544hg18UCSC Ensembl
Innerchr14:19272965..19496544hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38223580
hg19223580
hg18223580
hg17223580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e55
Supporting Variantsessv6989001, essv6987336
SamplesNA18972
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34398
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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