A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34321



Internal ID12990360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19798855..19964642hg38UCSC Ensembl
Innerchr14:20267014..20432801hg19UCSC Ensembl
Innerchr14:19336854..19502641hg18UCSC Ensembl
Innerchr14:19336854..19502641hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38165788
hg19165788
hg18165788
hg17165788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv79e55
Supporting Variantsessv6989146, essv6988312
SamplesNA18952
Known GenesOR4K1, OR4K2, OR4K5, OR4N2
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)esv34321
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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