A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13915



Internal ID11377834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74328208..74373774hg38UCSC Ensembl
Innerchr16:74362106..74407672hg19UCSC Ensembl
Innerchr16:72919607..72965173hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3845567
hg1945567
hg1845567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22159
Supporting Variantsessv59986, essv40585, essv59454, essv55616
SamplesNA12878, NA19099, NA18523, NA19108
Known GenesLOC283922
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)esv13915
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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