A curated catalogue of human genomic structural variation




Variant Details

Variant: essv67306



Internal ID10995484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15854558..15856785hg38UCSC Ensembl
Innerchr16:15948415..15950642hg19UCSC Ensembl
Innerchr16:15855916..15858143hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg382228
hg192228
hg182228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv17275
Supporting Variants
SamplesNA12828
Known GenesMYH11
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)essv67306
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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