A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751264



Internal ID12638130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20056096hg38UCSC Ensembl
Innerchr14:20203125..20524255hg19UCSC Ensembl
Innerchr14:19272965..19594095hg18UCSC Ensembl
Innerchr14:19272965..19594095hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38321131
hg19321131
hg18321131
hg17321131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81e55
Supporting Variantsessv6987434, essv6983836, essv6983835, essv6983837
SamplesBEC_633
Known GenesOR4K1, OR4K13, OR4K14, OR4K15, 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)esv2751264
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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