A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17848



Internal ID11035082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44739402..44740468hg38UCSC Ensembl
Innerchr22:45135282..45136348hg19UCSC Ensembl
Innerchr22:43513946..43515012hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381067
hg191067
hg181067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22273
Supporting Variantsessv62690
SamplesNA15510
Known GenesPRR5-ARHGAP8
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)esv17848
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer