A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14925



Internal ID11378844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30378352..30395214hg38UCSC Ensembl
Innerchr15:30670555..30687417hg19UCSC Ensembl
Innerchr15:28457847..28474709hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg3816863
hg1916863
hg1816863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26291
Supporting Variantsessv60350
SamplesNA18523
Known GenesCHRFAM7A
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)esv14925
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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