A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18019



Internal ID11035253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3825338..4115745hg38UCSC Ensembl
Innerchr16:3875339..4165746hg19UCSC Ensembl
Innerchr16:3815340..4105747hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38290408
hg19290408
hg18290408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21490
Supporting Variantsessv64235, essv74849, essv76709
SamplesNA18511, NA12004, NA07045
Known GenesADCY9, CREBBP
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv18019
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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