A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21432



Internal ID11038666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:95096249..95236286hg38UCSC Ensembl
Innerchr10:96856006..96996043hg19UCSC Ensembl
Innerchr10:96845996..96986033hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38140038
hg19140038
hg18140038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22688
Supporting Variantsessv58403
SamplesNA19108
Known GenesC10orf129
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)esv21432
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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