A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982224



Internal ID12626710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164807983..164880983hg38UCSC Ensembl
Innerchr2:165664493..165737493hg19UCSC Ensembl
Innerchr2:165372739..165445739hg18UCSC Ensembl
Innerchr2:165490000..165563000hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3873001
hg1973001
hg1873001
hg1773001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751833
Supporting Variants
SamplesBEC_404
Known GenesCOBLL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982224
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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