A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751261



Internal ID12984813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20015468hg38UCSC Ensembl
Innerchr14:20203125..20483627hg19UCSC Ensembl
Innerchr14:19272965..19553467hg18UCSC Ensembl
Innerchr14:19272965..19553467hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38280503
hg19280503
hg18280503
hg17280503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6986068, essv6988485
SamplesBEC_515
Known GenesOR4K1, OR4K14, 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)esv2751261
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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