A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25206



Internal ID11042439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:88913188..89001628hg38UCSC Ensembl
Innerchr15:89456419..89544859hg19UCSC Ensembl
Innerchr15:87257423..87345863hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3888441
hg1988441
hg1888441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13344, esv17710
SamplesNA19190, NA12878, NA19099
Known GenesMFGE8
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)esv25206
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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