A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15769



Internal ID11033003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109673544..109716486hg38UCSC Ensembl
Innerchr1:110216166..110259108hg19UCSC Ensembl
Innerchr1:110017689..110060631hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3842943
hg1942943
hg1842943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25172
Supporting Variantsessv35777, essv76346, essv70896, essv82024
SamplesNA12414, NA18916, NA18907, NA19114
Known GenesGSTM1, GSTM2, GSTM5
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)esv15769
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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