A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11374



Internal ID11028608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230964..19382510hg38UCSC Ensembl
Innerchr14:19817427..19970208hg19UCSC Ensembl
Innerchr14:18887427..19040208hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38151547
hg19152782
hg18152782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23873
Supporting Variantsessv54006, essv38989, essv72114, essv48677, essv63418
SamplesNA18508, NA12287, NA15510, NA19225, NA07037
Known GenesBMS1P17, BMS1P18
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)esv11374
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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