A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984247



Internal ID12630001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22932509..23177961hg38UCSC Ensembl
Innerchr13:23506648..23752100hg19UCSC Ensembl
Innerchr13:22404648..22650100hg18UCSC Ensembl
Innerchr13:22404648..22650100hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38245453
hg19245453
hg18245453
hg17245453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751135
Supporting Variants
SamplesBEC_681
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984247
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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