A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751220



Internal ID12984772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19957801hg38UCSC Ensembl
Innerchr14:20203125..20425960hg19UCSC Ensembl
Innerchr14:19272965..19495800hg18UCSC Ensembl
Innerchr14:19272965..19495800hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38222836
hg19222836
hg18222836
hg17222836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6987471, essv6984002, essv6984001, essv6987472
SamplesBEC_742
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)esv2751220
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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