A curated catalogue of human genomic structural variation




Variant Details

Variant: essv69253



Internal ID11332405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123532475..123532952hg38UCSC Ensembl
Innerchr12:124017022..124017499hg19UCSC Ensembl
Innerchr12:122582975..122583452hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38478
hg19478
hg18478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv13410
Supporting Variants
SamplesNA12044
Known GenesRILPL1
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)essv69253
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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