A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27496



Internal ID4358397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154557189..154569898hg38UCSC Ensembl
InnerchrX:153785404..153798129hg19UCSC Ensembl
InnerchrX:153438598..153451323hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3812710
hg1912726
hg1812726
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18732
SamplesNA18511, NA12776, NA18909, NA19225
Known GenesIKBKG
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)esv27496
Frequency
Sample Size40
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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