A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29570



Internal ID11393489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110913649..110915868hg38UCSC Ensembl
Innerchr13:111565996..111568215hg19UCSC Ensembl
Innerchr13:110363997..110366216hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382220
hg192220
hg182220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17245
SamplesNA12156
Known GenesANKRD10
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)esv29570
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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