A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19423



Internal ID11383342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131637542..131978483hg38UCSC Ensembl
Innerchr4:132558697..132899638hg19UCSC Ensembl
Innerchr4:132778147..133119088hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38340942
hg19340942
hg18340942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28086
Supporting Variantsessv57122, essv40787, essv49370, essv68976, essv34748, essv47997, essv45648, essv38033, essv56124, essv41403
SamplesNA18502, NA18861, NA11993, NA12878, NA19257, NA18858, NA18517, NA18505, NA19129, NA12776
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)esv19423
Frequency
Sample Size40
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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