A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26897



Internal ID11390816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50343296..50348608hg38UCSC Ensembl
Innerchr22:50781725..50787037hg19UCSC Ensembl
Innerchr22:49128591..49133903hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385313
hg195313
hg185313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10150, esv13902
SamplesNA19190, NA11894, NA19099, NA18858, NA19108, NA19240, NA18505, NA19129
Known GenesPPP6R2
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)esv26897
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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