A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11158



Internal ID11028392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135752356..135889456hg38UCSC Ensembl
InnerchrX:134920787..134971614hg19UCSC Ensembl
InnerchrX:134748453..134799280hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38137101
hg1950828
hg1850828
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27752
Supporting Variantsessv73489, essv77647, essv84049, essv64121, essv37439, essv68629, essv36118, essv71239, essv37834, essv51598, essv34221
SamplesNA18502, NA11931, NA19190, NA18916, NA12156, NA18907, NA07045, NA11894, NA19257, NA06985, NA18858
Known GenesCT45A4, CT45A5, CT45A6
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)esv11158
Frequency
Sample Size40
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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