A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752147



Internal ID12639013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143875193..144169439hg38UCSC Ensembl
Innerchr7:143572286..143866532hg19UCSC Ensembl
Innerchr7:143203219..143497465hg18UCSC Ensembl
Innerchr7:143009934..143304180hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38294247
hg19294247
hg18294247
hg17294247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982881, essv6982882, essv6982880, essv6986296
SamplesBEC_607
Known GenesFAM115A, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2F1, OR2F2, OR6B1
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)esv2752147
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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