A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13084



Internal ID11030318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48148681..48172036hg38UCSC Ensembl
InnerchrX:48008109..48031464hg19UCSC Ensembl
InnerchrX:47893053..47916408hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3823356
hg1923356
hg1823356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25781
Supporting Variantsessv78399
SamplesNA06985
Known Genes
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)esv13084
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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