A curated catalogue of human genomic structural variation




Variant Details

Variant: essv38001



Internal ID11026234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132281757..132282247hg38UCSC Ensembl
Innerchr12:132858343..132858833hg19UCSC Ensembl
Innerchr12:131368416..131368906hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38491
hg19491
hg18491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv14708
Supporting Variants
SamplesNA19257
Known GenesGALNT9
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)essv38001
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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