A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21215



Internal ID11385134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15915554..15927980hg38UCSC Ensembl
Innerchr22:16050035..16062403hg19UCSC Ensembl
Innerchr22:14430035..14442403hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3812427
hg1912369
hg1812369
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25550
Supporting Variantsessv34620, essv77967, essv53145, essv35657, essv80231, essv82184, essv50350, essv39181, essv41107, essv38292, essv64492
SamplesNA18502, NA11995, NA18508, NA12287, NA12878, NA18907, NA07045, NA19114, NA19257, NA06985, NA18517
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)esv21215
Frequency
Sample Size40
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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