A curated catalogue of human genomic structural variation




Variant Details

Variant: essv34199



Internal ID11345713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:73596563..73610993hg38UCSC Ensembl
InnerchrX:72816399..72830828hg19UCSC Ensembl
InnerchrX:72733124..72747553hg18UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3814431
hg1914430
hg1814430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv15115
Supporting Variants
SamplesNA18502
Known GenesCHIC1
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)essv34199
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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