A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10675



Internal ID11027909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70862878..70917303hg38UCSC Ensembl
Innerchr5:70158705..70213130hg19UCSC Ensembl
Innerchr5:70194461..70248886hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854426
hg1954426
hg1854426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22113
Supporting Variantsessv54665, essv65621
SamplesNA19099, NA19240
Known GenesSERF1A, SERF1B
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)esv10675
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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