A curated catalogue of human genomic structural variation




Variant Details

Variant: essv32478



Internal ID11367640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64315773..64333935hg38UCSC Ensembl
Innerchr20:62947126..62965288hg19UCSC Ensembl
Innerchr20:62417570..62435732hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3818163
hg1918163
hg1818163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17356
Supporting Variants
SamplesNA19147
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)essv32478
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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