A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15328



Internal ID11379247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136334..35145335hg38UCSC Ensembl
Innerchr14:35605540..35614541hg19UCSC Ensembl
Innerchr14:34675291..34684292hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg389002
hg199002
hg189002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24640
Supporting Variantsessv57266, essv72328, essv58538, essv39739, essv69604, essv67332
SamplesNA12287, NA12044, NA12828, NA11993, NA19225, NA19108
Known GenesKIAA0391
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)esv15328
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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