A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34626



Internal ID12990662
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 Variantsessv6978712, essv6978711
SamplesNA12155
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)esv34626
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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