A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19499



Internal ID11036733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21132628..21210496hg38UCSC Ensembl
Innerchr22:21486917..21564785hg19UCSC Ensembl
Innerchr22:19816917..19894785hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3877869
hg1977869
hg1877869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28075
Supporting Variantsessv65596, essv76607, essv75466, essv44766, essv69925, essv79024
SamplesNA12414, NA12044, NA12489, NA19240, NA12749, NA18511
Known GenesFAM230B
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)esv19499
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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