A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16320



Internal ID11380239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28403900..28415390hg38UCSC Ensembl
Innerchr16:28415221..28426711hg19UCSC Ensembl
Innerchr16:28322722..28334212hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3811491
hg1911491
hg1811491
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23667
Supporting Variantsessv75517, essv61936, essv72975, essv50626, essv65492, essv57697, essv58039, essv53062, essv59533
SamplesNA18508, NA12414, NA11993, NA12239, NA19225, NA18523, NA19108, NA18517, NA19240
Known GenesEIF3C
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)esv16320
Frequency
Sample Size40
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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