A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751215



Internal ID12984767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19734966..19957752hg38UCSC Ensembl
Innerchr14:20203125..20425911hg19UCSC Ensembl
Innerchr14:19272965..19495751hg18UCSC Ensembl
Innerchr14:19272965..19495751hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38222787
hg19222787
hg18222787
hg17222787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv80e55
Supporting Variantsessv6983146, essv6983148, essv6983147, essv6983145, essv6983144
SamplesBEC_547
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)esv2751215
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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