A curated catalogue of human genomic structural variation

Variant Details

Variant: esv24461

Internal ID11041694
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1095063..1096738hg38UCSC Ensembl
Innerchr4:1088851..1090526hg19UCSC Ensembl
Innerchr4:1078851..1080526hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20826
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18517, NA19257, NA19108, NA18505, NA12287, NA19147, NA18508, NA18916, NA19190, NA19129, NA18502, NA18858, NA18907, NA18909, NA19225, NA19240
Known GenesRNF212
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)esv24461
Sample Size40
Observed Gain0
Observed Loss21
Observed Complex0

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