A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20531



Internal ID11384450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:60031..149517hg38UCSC Ensembl
Innerchr6:60031..149517hg19UCSC Ensembl
Innerchr6:5031..94517hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3889487
hg1989487
hg1889487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26003
Supporting Variantsessv55594, essv83384, essv73535, essv40894, essv59535, essv42256, essv71893, essv36276, essv71125, essv48927, essv43235, essv77260, essv63262
SamplesNA19190, NA18916, NA12156, NA12878, NA18907, NA15510, NA19099, NA19225, NA18523, NA18909, NA07037, NA18505, NA18511
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)esv20531
Frequency
Sample Size40
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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