A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34209



Internal ID12643562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162119541..162407526hg38UCSC Ensembl
Innerchr1:162089331..162377316hg19UCSC Ensembl
Innerchr1:160355955..160643940hg18UCSC Ensembl
Innerchr1:158820989..159108974hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38287986
hg19287986
hg18287986
hg17287986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986899, essv6979588, essv6979587, essv6990384, essv6979589
SamplesNA18576
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP, SH2D1B
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)esv34209
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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