A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18137



Internal ID11035371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10563561..10652786hg38UCSC Ensembl
Innerchr21:10859671..10948896hg19UCSC Ensembl
Innerchr21:9881542..9970767hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3889226
hg1989226
hg1889226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28756
Supporting Variantsessv45885, essv76940, essv56711, essv74374, essv42133, essv43669, essv33111, essv49531, essv57720
SamplesNA12004, NA11993, NA18909, NA19147, NA18517, NA18505, NA19129, NA18511, NA12776
Known GenesTPTE
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)esv18137
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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