A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751240



Internal ID12984792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19964829hg38UCSC Ensembl
Innerchr14:20203125..20432988hg19UCSC Ensembl
Innerchr14:19272965..19502828hg18UCSC Ensembl
Innerchr14:19272965..19502828hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229864
hg19229864
hg18229864
hg17229864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6988749, essv6984058, essv6984059
SamplesBEC_765
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)esv2751240
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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