A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25013



Internal ID11042246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243473476..243474459hg38UCSC Ensembl
Innerchr1:243636778..243637761hg19UCSC Ensembl
Innerchr1:241703401..241704384hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38984
hg19984
hg18984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19437
SamplesNA12828, NA15510, NA19129, NA06985, NA18907
Known GenesSDCCAG8
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)esv25013
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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