A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21483



Internal ID4352384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:43712937..43726469hg38UCSC Ensembl
InnerchrX:43572184..43585716hg19UCSC Ensembl
InnerchrX:43457128..43470660hg18UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3813533
hg1913533
hg1813533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15847, esv11300
SamplesNA12828, NA12044
Known GenesMAOA
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)esv21483
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer