A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18756



Internal ID11035990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:134841830..134903458hg19UCSC Ensembl
InnerchrX:134669496..134731124hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg1961629
hg1861629
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27752
Supporting Variantsessv51180, essv34411, essv64246, essv37639, essv77652, essv36468, essv70799, essv73890, essv68494, essv37325
SamplesNA18502, NA11931, NA18916, NA12156, NA18907, NA07045, NA11894, NA19257, NA06985, NA18858
Known GenesCT45A1, CT45A2, CT45A3, CT45A4
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)esv18756
Frequency
Sample Size40
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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