A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23219



Internal ID11040452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89852049..89853024hg38UCSC Ensembl
Innerchr16:89918457..89919432hg19UCSC Ensembl
Innerchr16:88445958..88446933hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38976
hg19976
hg18976
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13356, esv19745
SamplesNA19190, NA06985, NA12156, NA19099, NA19225, NA19240
Known GenesSPIRE2
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)esv23219
Frequency
Sample Size40
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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