A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26073



Internal ID11043306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54074315..54126218hg38UCSC Ensembl
Innerchr12:54468099..54520002hg19UCSC Ensembl
Innerchr12:52754366..52806269hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3851904
hg1951904
hg1851904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15520, esv17758
SamplesNA18916, NA18909, NA12878, NA19225
Known GenesFLJ12825, LOC100240734, LOC100240735, LOC400043
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)esv26073
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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