A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10828



Internal ID11028062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82427709..82550890hg38UCSC Ensembl
Innerchr15:83096440..83219640hg19UCSC Ensembl
Innerchr15:80893495..81016695hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38123182
hg19123201
hg18123201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22027
Supporting Variantsessv67540, essv35449, essv61060, essv82853, essv38619, essv49493, essv55985, essv79857
SamplesNA11995, NA19190, NA18907, NA12239, NA19257, NA18858, NA18517, NA12776
Known GenesCPEB1, CSPG4P8, GOLGA6L20, GOLGA6L9, 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)esv10828
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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