A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10105



Internal ID11027339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42127625..42135086hg38UCSC Ensembl
Innerchr22:42523627..42531095hg19UCSC Ensembl
Innerchr22:40853571..40861039hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387462
hg197469
hg187469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27312
Supporting Variantsessv44482, essv47565
SamplesNA18861, NA12489
Known GenesCYP2D6
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)esv10105
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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