A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980560



Internal ID12982612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:240568..460640hg38UCSC Ensembl
Innerchr8:190568..410640hg19UCSC Ensembl
Innerchr8:180568..400640hg18UCSC Ensembl
Innerchr8:180568..400640hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38220073
hg19220073
hg18220073
hg17220073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34734
Supporting Variants
SamplesNA19209
Known GenesFAM87A, FBXO25, ZNF596
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980560
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer