A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28511



Internal ID4359412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:68213679..68217315hg38UCSC Ensembl
Innerchr5:67509507..67513143hg19UCSC Ensembl
Innerchr5:67545263..67548899hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg383637
hg193637
hg183637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16752
SamplesNA18511, NA12414
Known GenesPIK3R1
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)esv28511
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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