A curated catalogue of human genomic structural variation




Variant Details

Variant: essv50254



Internal ID11003801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82428960..82519439hg38UCSC Ensembl
Innerchr15:82721165..82803852hg19UCSC Ensembl
Innerchr15:80508220..80590907hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3890480
hg1982688
hg1882688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv13479
Supporting Variants
SamplesNA18517
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)essv50254
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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