A curated catalogue of human genomic structural variation




Variant Details

Variant: essv38984



Internal ID10990020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12890299..12935950hg38UCSC Ensembl
Innerchr1:12950129..12995780hg19UCSC Ensembl
Innerchr1:12872716..12918367hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3845652
hg1945652
hg1845652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20242
Supporting Variants
SamplesNA12287
Known GenesPRAMEF10, 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)essv38984
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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