A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14335



Internal ID11378254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:10086..44769hg38UCSC Ensembl
InnerchrX:60086..94769hg19UCSC Ensembl
InnerchrX:86..34769hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3834684
hg1934684
hg1834684
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24825
Supporting Variantsessv78129, essv51746, essv41184, essv39007, essv42863, essv59979, essv40473, essv62401
SamplesNA12287, NA12878, NA15510, NA06985, NA18523, NA18909, NA18505, NA12006
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)esv14335
Frequency
Sample Size40
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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