A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13497



Internal ID11030731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101039060..101039702hg38UCSC Ensembl
Innerchr4:101960217..101960859hg19UCSC Ensembl
Innerchr4:102179240..102179882hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38643
hg19643
hg18643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29822
Supporting Variantsessv43917, essv51586, essv45617, essv56399, essv34634
SamplesNA11931, NA12776, NA19129, NA18502, NA18909
Known GenesPPP3CA
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)esv13497
Frequency
Sample Size40
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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