A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19948



Internal ID11037182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133240901..133343351hg38UCSC Ensembl
Innerchr5:132576593..132679043hg19UCSC Ensembl
Innerchr5:132604492..132706942hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38102451
hg19102451
hg18102451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26142
Supporting Variantsessv76977
SamplesNA18511
Known GenesFSTL4
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)esv19948
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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