A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20973



Internal ID11038207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100183..102255hg38UCSC Ensembl
Innerchr5:100298..102370hg19UCSC Ensembl
Innerchr5:153298..155370hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382073
hg192073
hg182073
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23763
Supporting Variantsessv32754, essv48994, essv80518, essv41735, essv35834, essv84078, essv53498, essv68424, essv43045, essv70401, essv66059, essv38864
SamplesNA11995, NA18508, NA19190, NA18916, NA18907, NA19257, NA18858, NA18909, NA19147, NA19240, NA07037, NA18505
Known Genes
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)esv20973
Frequency
Sample Size40
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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