A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15471



Internal ID11032705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21396897..21592048hg38UCSC Ensembl
Innerchr16:21408218..21603369hg19UCSC Ensembl
Innerchr16:21315719..21510870hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38195152
hg19195152
hg18195152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25717
Supporting Variantsessv76450, essv61619, essv52108, essv42189, essv62520, essv59353
SamplesNA12414, NA12239, NA15510, NA19108, NA18505, NA12006
Known GenesLOC100190986, LOC100271836, NPIPB3, SLC7A5P2
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)esv15471
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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