A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751221



Internal ID12984773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19958501hg38UCSC Ensembl
Innerchr14:20203125..20426660hg19UCSC Ensembl
Innerchr14:19272965..19496500hg18UCSC Ensembl
Innerchr14:19272965..19496500hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38223536
hg19223536
hg18223536
hg17223536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6988545, essv6982507, essv6982506, essv6986194
SamplesBEC_460
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)esv2751221
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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