A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17074



Internal ID11380993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17376497..17381381hg38UCSC Ensembl
Innerchr6:17376728..17381612hg19UCSC Ensembl
Innerchr6:17484707..17489591hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384885
hg194885
hg184885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28152
Supporting Variantsessv75303, essv73676, essv49712, essv59630, essv76046, essv78471, essv55320, essv80342, essv52743, essv35034, essv82364
SamplesNA18502, NA11995, NA12414, NA12004, NA12156, NA19114, NA19099, NA06985, NA18523, NA18517, NA12006
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)esv17074
Frequency
Sample Size40
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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