A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983757



Internal ID12629182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43246504..43275204hg38UCSC Ensembl
Innerchr3:43287996..43316696hg19UCSC Ensembl
Innerchr3:43263000..43291700hg18UCSC Ensembl
Innerchr3:43263000..43291700hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3828701
hg1928701
hg1828701
hg1728701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752008
Supporting Variants
SamplesBEC_621
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983757
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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