A curated catalogue of human genomic structural variation

Variant Details

Variant: esv27319

Internal ID11044552
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52287366..52389709hg38UCSC Ensembl
Innerchr12:52681150..52783493hg19UCSC Ensembl
Innerchr12:50967417..51069760hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12884, esv17772, esv18328, esv10943, esv14644
SamplesNA07037, NA12776, NA11995, NA12239, NA12749
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
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
Pubmed ID19812545
Accession Number(s)esv27319
Sample Size40
Observed Gain4
Observed Loss1
Observed Complex0

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