A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13300



Internal ID11377219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:92495473..92496872hg38UCSC Ensembl
InnerchrX:91750472..91751871hg19UCSC Ensembl
InnerchrX:91637128..91638527hg18UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg381400
hg191400
hg181400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22341
Supporting Variantsessv54777, essv52776
SamplesNA18508, NA19099
Known GenesPCDH11X
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)esv13300
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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