A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13353



Internal ID11030587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89428941..89430546hg38UCSC Ensembl
Innerchr16:89495349..89496954hg19UCSC Ensembl
Innerchr16:88022850..88024455hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381606
hg191606
hg181606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26174
Supporting Variantsessv33910, essv62117, essv58127, essv77403, essv55497, essv47718, essv69800, essv66748, essv63752, essv40627, essv76368, essv50234, essv65077, essv39144, essv41523
SamplesNA18502, NA18861, NA12414, NA12287, NA12044, NA12828, NA12878, NA07045, NA12239, NA19099, NA19108, NA18517, NA19240, NA18505, NA18511
Known GenesANKRD11
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)esv13353
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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