A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24821



Internal ID11042054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155552998..155574053hg38UCSC Ensembl
InnerchrX:154782659..154803714hg19UCSC Ensembl
InnerchrX:154435853..154456908hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3821056
hg1921056
hg1821056
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11305, esv20313, esv16356
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA12828, NA18517, NA12776, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA19240
Known GenesTMLHE
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)esv24821
Frequency
Sample Size40
Observed Gain17
Observed Loss16
Observed Complex0
Frequencyn/a


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