A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28532



Internal ID11045765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236713655..236715074hg38UCSC Ensembl
Innerchr1:236876955..236878374hg19UCSC Ensembl
Innerchr1:234943578..234944997hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381420
hg191420
hg181420
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17607
SamplesNA18861, NA19114, NA18511, NA18505, NA12287, NA19147, NA18508, NA18502, NA18907, NA18909, NA19099, NA19225, NA19240
Known GenesACTN2
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)esv28532
Frequency
Sample Size40
Observed Gain2
Observed Loss11
Observed Complex0
Frequencyn/a


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