A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15550



Internal ID11379469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:138045274..138046056hg38UCSC Ensembl
Innerchr4:138966428..138967210hg19UCSC Ensembl
Innerchr4:139185878..139186660hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38783
hg19783
hg18783
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27865
Supporting Variantsessv45090, essv73990, essv75143, essv37109, essv49780, essv36086, essv63981, essv54957, essv59076, essv56370, essv70088, essv68385, essv54136, essv33135, essv79450, essv37700, essv72469, essv77969, essv82513, essv34822, essv39620, essv57673, essv46835
SamplesNA18502, NA18861, NA18508, NA12004, NA18916, NA12287, NA12156, NA11993, NA12489, NA18907, NA07045, NA19114, NA11894, NA19099, NA19257, NA19225, NA06985, NA18858, NA19108, NA19147, NA18517, NA12749, NA12776
Known GenesLINC00616
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)esv15550
Frequency
Sample Size40
Observed Gain22
Observed Loss1
Observed Complex0
Frequencyn/a


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