A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25233



Internal ID11042466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1190921..1191876hg38UCSC Ensembl
Innerchr16:1240921..1241876hg19UCSC Ensembl
Innerchr16:1180922..1181877hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38956
hg19956
hg18956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv9820
SamplesNA19108, NA18907, NA18909, NA12878
Known GenesCACNA1H
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)esv25233
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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