A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22004



Internal ID11039237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:75250031..75299281hg38UCSC Ensembl
Innerchr15:75542372..75591622hg19UCSC Ensembl
Innerchr15:73329425..73378675hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3849251
hg1949251
hg1849251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15468
SamplesNA12287, NA12239, NA18502, NA18909, NA19225
Known GenesGOLGA6C, GOLGA6D
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)esv22004
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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