A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34481



Internal ID12990518
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 gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6984106, essv6988755, essv6984105, essv6987489
SamplesBEC_775
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)esv34481
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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