A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20659



Internal ID11384578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140635031..140636266hg38UCSC Ensembl
Innerchr8:141645130..141646365hg19UCSC Ensembl
Innerchr8:141714312..141715547hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381236
hg191236
hg181236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24351
Supporting Variantsessv64048
SamplesNA07045
Known GenesAGO2, RNU6-31P
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)esv20659
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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