A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13205



Internal ID11030439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106324947..106373572hg38UCSC Ensembl
Innerchr14:106781204..106829503hg19UCSC Ensembl
Innerchr14:105852249..105900548hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3848626
hg1948300
hg1848300
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv40901, essv77856, essv33286, essv51086, essv48773, essv39247, essv45450, essv47354, essv67042, essv41144, essv75575
SamplesNA18861, NA12414, NA11931, NA12287, NA12828, NA12878, NA06985, NA19147, NA07037, NA18505, NA19129
Known Genes
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)esv13205
Frequency
Sample Size40
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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