A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21312



Internal ID11038546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:126830..205180hg38UCSC Ensembl
Innerchr8:76830..155180hg19UCSC Ensembl
Innerchr8:66830..145180hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3878351
hg1978351
hg1878351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26079
Supporting Variantsessv44903, essv55279, essv41847, essv43800, essv54143, essv59584, essv82717, essv63301, essv40463
SamplesNA18508, NA19190, NA12489, NA12878, NA15510, NA19099, NA18523, NA18909, NA18505
Known GenesOR4F21
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)esv21312
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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