A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751253



Internal ID12984805
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e55
Supporting Variantsessv6988203, essv6979583
SamplesNA18573
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)esv2751253
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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