A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751268



Internal ID12638134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20248682hg38UCSC Ensembl
Innerchr14:20203125..20716841hg19UCSC Ensembl
Innerchr14:19272965..19786681hg18UCSC Ensembl
Innerchr14:19272965..19786681hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38513717
hg19513717
hg18513717
hg17513717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988786, essv6987553, essv6984314, essv6984313
SamplesBEC_688
Known GenesOR11G2, OR11H4, OR11H6, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, 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)esv2751268
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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