A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751236



Internal ID12984788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19964642hg38UCSC Ensembl
Innerchr14:20203125..20432801hg19UCSC Ensembl
Innerchr14:19272965..19502641hg18UCSC Ensembl
Innerchr14:19272965..19502641hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229677
hg19229677
hg18229677
hg17229677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e55
Supporting Variantsessv6980040, essv6988298
SamplesNA18944
Known GenesOR4K1, 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)esv2751236
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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