A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84199



Internal ID11047460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509422..68617559hg38UCSC Ensembl
Innerchr4:69375140..69483277hg19UCSC Ensembl
Innerchr4:69057735..69165872hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38108138
hg19108138
hg18108138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv29960
Supporting Variants
SamplesWATSON
Known GenesUGT2B17
MethodOligo aCGH
AnalysisThe data were analyzed using the CGH Analytics software.
PlatformAgilent-014584 Human Genome 244K CGH Microarray (Alpha Test)
Comments
ReferenceWheeler_et_al_2008
Pubmed ID18421352
Accession Number(s)essv84199
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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