A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751248



Internal ID12984800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19964885hg38UCSC Ensembl
Innerchr14:20203125..20433044hg19UCSC Ensembl
Innerchr14:19272965..19502884hg18UCSC Ensembl
Innerchr14:19272965..19502884hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229920
hg19229920
hg18229920
hg17229920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6988496, essv6982153, essv6982151, essv6982152
SamplesBEC_397
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)esv2751248
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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