A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12511



Internal ID11376430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138087796..138262920hg38UCSC Ensembl
Innerchr9:140982248..141153370hg19UCSC Ensembl
Innerchr9:140102069..140273191hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38175125
hg19171123
hg18171123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27764
Supporting Variantsessv82966, essv51199, essv47870, essv53756, essv52748, essv68918, essv55418, essv35072
SamplesNA18502, NA18861, NA18508, NA11931, NA19190, NA19099, NA18858, NA12006
Known GenesCACNA1B, FAM157B, TUBBP5
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)esv12511
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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