A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10555



Internal ID11374474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17599651..17643423hg38UCSC Ensembl
Innerchr5:17599760..17643532hg19UCSC Ensembl
Innerchr5:17642863..17676230hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3843773
hg1943773
hg1833368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22107
Supporting Variantsessv49352, essv44342
SamplesNA12489, NA18517
Known Genes
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)esv10555
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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