A curated catalogue of human genomic structural variation

Variant Details

Variant: esv11039

Internal ID11028273
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:77288490..77296854hg38UCSC Ensembl
Innerchr3:77337641..77346005hg19UCSC Ensembl
Innerchr3:77420331..77428695hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29384
Supporting Variantsessv56801, essv58649, essv53449, essv78174, essv63938, essv66547, essv66155, essv42778
SamplesNA12828, NA12776, NA19108, NA18508, NA07045, NA06985, NA18909, NA19240
Known GenesROBO2
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
Pubmed ID19812545
Accession Number(s)esv11039
Sample Size40
Observed Gain3
Observed Loss5
Observed Complex0

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