A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13994



Internal ID11031228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105895622..105916838hg38UCSC Ensembl
Innerchr14:106361480..106382697hg19UCSC Ensembl
Innerchr14:105432525..105453742hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3821217
hg1921218
hg1821218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv54977, essv73203, essv59847, essv56902, essv47587, essv75785, essv39335, essv40612, essv69159, essv36557, essv48911
SamplesNA18861, NA12414, NA12287, NA12156, NA12044, NA11993, NA12878, NA11894, NA19099, NA18523, NA07037
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)esv13994
Frequency
Sample Size40
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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