A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27985



Internal ID11045218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17876641..17877737hg38UCSC Ensembl
Innerchr22:18359407..18360503hg19UCSC Ensembl
Innerchr22:16739407..16740503hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381097
hg191097
hg181097
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18333
SamplesNA19190, NA12044, NA19114, NA19147, NA19240
Known GenesMICAL3
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)esv27985
Frequency
Sample Size40
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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