A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13941



Internal ID11031175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109709717..109716382hg38UCSC Ensembl
Innerchr1:110252339..110259004hg19UCSC Ensembl
Innerchr1:110053862..110060527hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386666
hg196666
hg186666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25172
Supporting Variantsessv37071, essv33578, essv49993, essv65344, essv47343, essv68896, essv55285
SamplesNA18861, NA11894, NA19099, NA18858, NA19147, NA18517, NA19240
Known GenesGSTM5
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)esv13941
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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