A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34663



Internal ID12644013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46610254..46647054hg38UCSC Ensembl
Innerchr20:45238893..45275693hg19UCSC Ensembl
Innerchr20:44672300..44709100hg18UCSC Ensembl
Innerchr20:44672300..44709100hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3836801
hg1936801
hg1836801
hg1736801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979410, essv6990362
SamplesNA18547
Known GenesSLC13A3
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)esv34663
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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