A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13479



Internal ID11030713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82428797..82529132hg38UCSC Ensembl
Innerchr15:82721003..82813540hg19UCSC Ensembl
Innerchr15:80508058..80600595hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38100336
hg1992538
hg1892538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21531
Supporting Variantsessv41952, essv56701, essv55365, essv61329, essv47138, essv50254, essv83680, essv68372, essv71972, essv45819
SamplesNA18861, NA19190, NA12239, NA19099, NA19225, NA18858, NA18517, NA18505, NA19129, NA12776
Known GenesCSPG4P8, GOLGA6L20, GOLGA6L9, LOC440300, LOC80154
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)esv13479
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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