A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23639



Internal ID11040872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72054601..72078398hg38UCSC Ensembl
Innerchr16:72088500..72112297hg19UCSC Ensembl
Innerchr16:70646001..70669798hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3823798
hg1923798
hg1823798
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13014, esv11219
SamplesNA18508, NA11931, NA18916, NA12156, NA15510, NA19099, NA18909, NA19108, NA18517, NA19240, NA18505, NA18511, NA12776
Known GenesHP, HPR
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)esv23639
Frequency
Sample Size40
Observed Gain9
Observed Loss4
Observed Complex0
Frequencyn/a


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