A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161250



Internal ID7905964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2100396..3314907hg38UCSC Ensembl
Innerchr3:2142080..3356591hg19UCSC Ensembl
Innerchr3:2117080..3331591hg18UCSC Ensembl
Innerchr3:2117080..3331591hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg381214512
hg191214512
hg181214512
hg171214512
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422274
Supporting Variants
SamplesND03627
Known GenesCNTN4, CNTN4-AS2, CRBN, IL5RA, TRNT1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161250
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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