A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29849



Internal ID11393768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2599817..2686114hg38UCSC Ensembl
Innerchr16:2649818..2736115hg19UCSC Ensembl
Innerchr16:2589819..2676116hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3886298
hg1986298
hg1886298
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14324, esv15593
SamplesNA18502, NA11931, NA12044, NA11993, NA12489, NA11894, NA12239, NA18505, NA12006, NA12776
Known GenesERVK13-1, FLJ42627, KCTD5, LOC652276, PDPK1
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)esv29849
Frequency
Sample Size40
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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