A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15978



Internal ID11033212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42121254..42145966hg38UCSC Ensembl
Innerchr22:42517258..42541967hg19UCSC Ensembl
Innerchr22:40847202..40871911hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3824713
hg1924710
hg1824710
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27312
Supporting Variantsessv43392, essv59286, essv34542, essv77907, essv82694, essv53985, essv55853, essv48232
SamplesNA18502, NA18508, NA19190, NA06985, NA18909, NA19108, NA07037, NA12776
Known GenesCYP2D6, CYP2D7P, NDUFA6-AS1
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)esv15978
Frequency
Sample Size40
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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