A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751210



Internal ID12984762
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 Variantsessv6982269, essv6988512, essv6986123
SamplesBEC_41
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751210
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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