A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11039



Internal ID11028273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:77288490..77296854hg38UCSC Ensembl
Innerchr3:77337641..77346005hg19UCSC Ensembl
Innerchr3:77420331..77428695hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg388365
hg198365
hg188365
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
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv11039
Frequency
Sample Size40
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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