A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21507



Internal ID11038741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:389488..393004hg38UCSC Ensembl
Innerchr5:389603..393119hg19UCSC Ensembl
Innerchr5:442603..446119hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383517
hg193517
hg183517
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19394, esv15509
SamplesNA18861, NA19114, NA18511, NA18517, NA15510, NA19147, NA18916, NA18858, NA19225
Known GenesAHRR
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)esv21507
Frequency
Sample Size40
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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