A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990391



Internal ID12633840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2233271..2445591hg38UCSC Ensembl
Innerchr3:2274955..2487275hg19UCSC Ensembl
Innerchr3:2249955..2462275hg18UCSC Ensembl
Innerchr3:2249955..2462275hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38212321
hg19212321
hg18212321
hg17212321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34352
Supporting Variants
SamplesNA18592
Known GenesCNTN4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990391
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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