A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11219



Internal ID11028453
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23639
Supporting Variantsessv41754, essv58499, essv50300, essv52901, essv54620, essv65895
SamplesNA18508, NA19099, NA19108, NA18517, NA19240, NA18505
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)esv11219
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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