A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15767



Internal ID11033001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3825753..3880050hg38UCSC Ensembl
Innerchr16:3875754..3930051hg19UCSC Ensembl
Innerchr16:3815755..3870052hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3854298
hg1954298
hg1854298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21490
Supporting Variantsessv64852, essv76844
SamplesNA18511, NA07045
Known GenesCREBBP
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)esv15767
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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