A curated catalogue of human genomic structural variation




Variant Details

Variant: essv38619



Internal ID11026852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82440693..82550890hg38UCSC Ensembl
Innerchr15:83109420..83219640hg19UCSC Ensembl
Innerchr15:80906475..81016695hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38110198
hg19110221
hg18110221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv10828
Supporting Variants
SamplesNA19257
Known GenesCPEB1, CSPG4P8, LOC727751, LOC80154, RPS17, RPS17L
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)essv38619
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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