A curated catalogue of human genomic structural variation




Variant Details

Variant: essv49018



Internal ID10977150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105646603..105860536hg38UCSC Ensembl
Innerchr14:106112940..106326746hg19UCSC Ensembl
Innerchr14:105183985..105397791hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38213934
hg19213807
hg18213807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv13092
Supporting Variants
SamplesNA07037
Known GenesELK2AP
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)essv49018
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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