A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20242



Internal ID11037476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12888533..12939921hg38UCSC Ensembl
Innerchr1:12948357..12999751hg19UCSC Ensembl
Innerchr1:12870944..12922338hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3851389
hg1951395
hg1851395
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28644
Supporting Variantsessv66152, essv38984, essv81350, essv45100, essv53135, essv73456, essv83324, essv57696, essv78024, essv54937
SamplesNA18508, NA19190, NA12287, NA12156, NA11993, NA12489, NA19114, NA19099, NA06985, NA19240
Known GenesPRAMEF10, PRAMEF6, PRAMEF7, PRAMEF8
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)esv20242
Frequency
Sample Size40
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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