A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23547



Internal ID11387466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58847198..58869038hg38UCSC Ensembl
Innerchr11:58614671..58636511hg19UCSC Ensembl
Innerchr11:58371247..58393087hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3821841
hg1921841
hg1821841
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15332, esv13443
SamplesNA18508, NA12489, NA07045, NA15510, NA18505, NA19129, NA12776
Known Genes
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)esv23547
Frequency
Sample Size40
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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