A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28884



Internal ID11046117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110067919..110068852hg38UCSC Ensembl
Innerchr9:112830199..112831132hg19UCSC Ensembl
Innerchr9:111870020..111870953hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38934
hg19934
hg18934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14213
SamplesNA18508, NA19129, NA18907, NA19225
Known GenesAKAP2, PALM2-AKAP2
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)esv28884
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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