A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10322



Internal ID11374241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28283014..28459965hg38UCSC Ensembl
Innerchr15:28528160..28705000hg19UCSC Ensembl
Innerchr15:26201755..26378706hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38176952
hg19176841
hg18176952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22824
Supporting Variantsessv34070, essv65535
SamplesNA18502, NA19240
Known GenesGOLGA8F, GOLGA8G, HERC2, MIR4509-1, MIR4509-2, MIR4509-3
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)esv10322
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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