A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27516



Internal ID11044749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55096410..55098125hg38UCSC Ensembl
Innerchr19:55607778..55609493hg19UCSC Ensembl
Innerchr19:60299590..60301305hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381716
hg191716
hg181716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19087
SamplesNA11993, NA19240
Known GenesPPP1R12C
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)esv27516
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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