A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751222



Internal ID12984774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19958545hg38UCSC Ensembl
Innerchr14:20203125..20426704hg19UCSC Ensembl
Innerchr14:19272965..19496544hg18UCSC Ensembl
Innerchr14:19272965..19496544hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38223580
hg19223580
hg18223580
hg17223580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6988612, essv6986317
SamplesBEC_532
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)esv2751222
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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