A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751267



Internal ID12638133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..20158001hg38UCSC Ensembl
Innerchr14:20203125..20626160hg19UCSC Ensembl
Innerchr14:19272965..19696000hg18UCSC Ensembl
Innerchr14:19272965..19696000hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38423036
hg19423036
hg18423036
hg17423036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81e55
Supporting Variantsessv6981119, essv6985482, essv6988357, essv6981118
SamplesBEC_354
Known GenesOR4K1, 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)esv2751267
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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