A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25247



Internal ID11042480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46183446..46184436hg38UCSC Ensembl
Innerchr21:47603360..47604350hg19UCSC Ensembl
Innerchr21:46427788..46428778hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15601
SamplesNA19114, NA18916, NA19129, NA18858, NA18907
Known GenesSPATC1L
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)esv25247
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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