A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27663



Internal ID11044896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131680929..131681859hg38UCSC Ensembl
Innerchr11:131550823..131551753hg19UCSC Ensembl
Innerchr11:131056033..131056963hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38931
hg19931
hg18931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10772
SamplesNA18517, NA12776, NA19108, NA18505, NA18916, NA19190, NA19129, NA19099, NA19240
Known GenesNTM
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)esv27663
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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