A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26239



Internal ID11390158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46777541..46893025hg38UCSC Ensembl
Innerchr8:47689163..47804647hg19UCSC Ensembl
Innerchr8:47808328..47923812hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38115485
hg19115485
hg18115485
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18993, esv12681, esv10091, esv20376, esv13096, esv16538, esv14844, esv18001, esv14608, esv17039, esv9834
SamplesNA18861, NA18508, NA18916, NA12287, NA12156, NA12489, NA12878, NA12239, NA15510, NA19225, NA18858, NA18909, NA19108, NA19147, NA19240, NA12776
Known GenesLINC00293
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)esv26239
Frequency
Sample Size40
Observed Gain1
Observed Loss15
Observed Complex0
Frequencyn/a


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