A curated catalogue of human genomic structural variation

Variant Details

Variant: esv12733

Internal ID11029967
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550315..43553611hg38UCSC Ensembl
Innerchr21:44970196..44973492hg19UCSC Ensembl
Innerchr21:43794624..43797920hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29530
Supporting Variantsessv72319, essv69723, essv62581, essv44800, essv53962, essv68009, essv50539, essv74107, essv51179, essv70311, essv37169, essv40544, essv57099, essv32684, essv78770, essv81690, essv55991, essv48111, essv74393, essv49101, essv77455, essv58444, essv61793, essv35498, essv51956, essv43779, essv65724, essv41448, essv83262
SamplesNA12489, NA18861, NA07037, NA19114, NA18511, NA11931, NA18517, NA12776, NA19108, NA15510, NA18505, NA12044, NA19147, NA18508, NA12004, NA11894, NA18916, NA19190, NA12006, NA12239, NA18858, NA18907, NA18909, NA12749, NA12156, NA12878, NA19225, NA11993, NA19240
Known GenesHSF2BP
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
Pubmed ID19812545
Accession Number(s)esv12733
Sample Size40
Observed Gain29
Observed Loss0
Observed Complex0

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