A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10302



Internal ID11374221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6083172..6100409hg38UCSC Ensembl
Innerchr11:6104402..6121639hg19UCSC Ensembl
Innerchr11:6060978..6078215hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3817238
hg1917238
hg1817238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29750
Supporting Variantsessv37590, essv32862, essv73307, essv38246, essv34881, essv53559, essv55537, essv70363, essv47486
SamplesNA18502, NA18861, NA18508, NA18916, NA12156, NA11894, NA19099, NA19257, NA19147
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)esv10302
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