A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980264



Internal ID12978108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143189460..143242460hg38UCSC Ensembl
Innerchr3:142908302..142961302hg19UCSC Ensembl
Innerchr3:144390992..144443992hg18UCSC Ensembl
Innerchr3:144391000..144444000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3853001
hg1953001
hg1853001
hg1753001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34280
Supporting Variants
SamplesNA06993
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980264
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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