A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980582



Internal ID12982667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:240568..450619hg38UCSC Ensembl
Innerchr8:190568..400619hg19UCSC Ensembl
Innerchr8:180568..390619hg18UCSC Ensembl
Innerchr8:180568..390619hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38210052
hg19210052
hg18210052
hg17210052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34882
Supporting Variants
SamplesNA19211
Known GenesFAM87A, FBXO25, ZNF596
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980582
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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