A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27945



Internal ID11045178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233630519..233631299hg38UCSC Ensembl
Innerchr1:233766265..233767045hg19UCSC Ensembl
Innerchr1:231832888..231833668hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38781
hg19781
hg18781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20225
SamplesNA19257, NA18858, NA18907, NA19240
Known GenesKCNK1
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)esv27945
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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