A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13282



Internal ID11030516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60073..129014hg38UCSC Ensembl
Innerchr8:10073..79014hg19UCSC Ensembl
Innerchr8:73..69014hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3868942
hg1968942
hg1868942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26079
Supporting Variantsessv75518, essv79444, essv51709, essv37477, essv61650, essv67717, essv39212, essv80770, essv81925, essv56073
SamplesNA11995, NA12414, NA12287, NA19114, NA11894, NA12239, NA18858, NA12749, NA12006, NA12776
Known Genes
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)esv13282
Frequency
Sample Size40
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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