A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980559



Internal ID12982638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:240568..352527hg38UCSC Ensembl
Innerchr8:190568..302527hg19UCSC Ensembl
Innerchr8:180568..292527hg18UCSC Ensembl
Innerchr8:180568..292527hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38111960
hg19111960
hg18111960
hg17111960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34734
Supporting Variants
SamplesNA19209
Known GenesZNF596
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980559
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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