A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22571



Internal ID11039804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19723976..19728431hg38UCSC Ensembl
Innerchr22:19711499..19715954hg19UCSC Ensembl
Innerchr22:18091499..18095954hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384456
hg194456
hg184456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16474
SamplesNA19129, NA18858, NA11993
Known GenesGP1BB, SEPT5-GP1BB
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)esv22571
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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