A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983756



Internal ID12629183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43243877..43319387hg38UCSC Ensembl
Innerchr3:43285369..43360879hg19UCSC Ensembl
Innerchr3:43260373..43335883hg18UCSC Ensembl
Innerchr3:43260373..43335883hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3875511
hg1975511
hg1875511
hg1775511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752008
Supporting Variants
SamplesBEC_621
Known GenesSNRK
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983756
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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