A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983398



Internal ID12629533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:31930..175961hg38UCSC Ensembl
Innerchr3:73603..217644hg19UCSC Ensembl
Innerchr3:48603..192644hg18UCSC Ensembl
Innerchr3:48603..192644hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38144032
hg19144042
hg18144042
hg17144042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752007
Supporting Variants
SamplesBEC_647
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983398
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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