A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18631



Internal ID11382550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22358283..22420847hg38UCSC Ensembl
Innerchr15:23452249..23514813hg19UCSC Ensembl
Innerchr15:21003690..21066254hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3862565
hg1962565
hg1862565
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28050
Supporting Variantsessv62820, essv71247, essv51332, essv58561, essv47295, essv48792, essv67819, essv44884, essv65803
SamplesNA18861, NA11931, NA18916, NA12489, NA15510, NA18858, NA19108, NA19240, NA07037
Known Genes
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)esv18631
Frequency
Sample Size40
Observed Gain5
Observed Loss4
Observed Complex0
Frequencyn/a


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