A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984249



Internal ID12630018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22982261..23165461hg38UCSC Ensembl
Innerchr13:23556400..23739600hg19UCSC Ensembl
Innerchr13:22454400..22637600hg18UCSC Ensembl
Innerchr13:22454400..22637600hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38183201
hg19183201
hg18183201
hg17183201
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984249
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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