A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21247



Internal ID11038481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70534304..70778638hg38UCSC Ensembl
Innerchr5:69830131..70074465hg19UCSC Ensembl
Innerchr5:69865887..70110221hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38244335
hg19244335
hg18244335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22113
Supporting Variantsessv73862, essv79272, essv34936, essv82981, essv46223, essv69406, essv50302, essv56354, essv61862, essv57298, essv43873, essv39244, essv67601, essv53682, essv40475
SamplesNA18502, NA18508, NA19190, NA12287, NA12156, NA12044, NA11993, NA12878, NA12239, NA18858, NA18909, NA18517, NA12749, NA19129, NA12776
Known GenesGUSBP9, SMA4, SMA5
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)esv21247
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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