A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15524



Internal ID11379443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94789540..94898957hg38UCSC Ensembl
Innerchr2:95455285..95564702hg19UCSC Ensembl
Innerchr2:94819012..94928429hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38109418
hg19109418
hg18109418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24702
Supporting Variantsessv58645, essv42202
SamplesNA19108, NA18505
Known GenesANKRD20A8P, LOC442028, TEKT4
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)esv15524
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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