A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22121



Internal ID11039354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87562316..87563831hg38UCSC Ensembl
Innerchr9:90177231..90178746hg19UCSC Ensembl
Innerchr9:89367051..89368566hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381516
hg191516
hg181516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19344
SamplesNA12828, NA11995, NA12749
Known GenesDAPK1
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)esv22121
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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