A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20620



Internal ID11037854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63864796..63918413hg38UCSC Ensembl
Innerchr9:68460530..68514147hg19UCSC Ensembl
Innerchr9:67950350..68003967hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3853618
hg1953618
hg1853618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25366
Supporting Variantsessv43178, essv62446
SamplesNA15510, NA18909
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)esv20620
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer