A curated catalogue of human genomic structural variation




Variant Details

Variant: essv45638



Internal ID11365389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24239490..24266148hg38UCSC Ensembl
Innerchr22:24635458..24662116hg19UCSC Ensembl
Innerchr22:22965458..22992116hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3826659
hg1926659
hg1826659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11783
Supporting Variants
SamplesNA19129
Known GenesGGT5, POM121L9P
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)essv45638
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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