A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21013



Internal ID11038247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248565805..248580244hg38UCSC Ensembl
Innerchr1:248729106..248743545hg19UCSC Ensembl
Innerchr1:246795729..246810168hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3814440
hg1914440
hg1814440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27363
Supporting Variantsessv67965
SamplesNA18858
Known GenesOR2T34
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)esv21013
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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