A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21564



Internal ID11038797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:110695400..110698973hg38UCSC Ensembl
InnerchrX:109938628..109942201hg19UCSC Ensembl
InnerchrX:109825284..109828857hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg383574
hg193574
hg183574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14139
SamplesNA18523, NA19147, NA19129, NA18907, NA19225
Known GenesCHRDL1
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)esv21564
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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