A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20997



Internal ID11038231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21480154..21584664hg38UCSC Ensembl
Innerchr16:21491475..21595985hg19UCSC Ensembl
Innerchr16:21398976..21503486hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38104511
hg19104511
hg18104511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25717
Supporting Variantsessv32850, essv77966, essv82493, essv67527, essv54397, essv48851, essv38121, essv80830, essv53404, essv40680, essv66657, essv50973, essv57160, essv47225, essv45378, essv66162, essv60541, essv44915, essv36138, essv42984, essv83883, essv72824
SamplesNA11995, NA18861, NA18508, NA11931, NA19190, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19147, NA19240, NA07037, NA19129
Known GenesLOC100271836, 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)esv20997
Frequency
Sample Size40
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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