A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10880



Internal ID11028114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7667461..8036387hg38UCSC Ensembl
Innerchr8:7524983..7893909hg19UCSC Ensembl
Innerchr8:7562393..7931319hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38368927
hg19368927
hg18368927
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25631
Supporting Variantsessv36853, essv57637, essv34012, essv72300, essv47591, essv50716, essv75793, essv84142, essv45192, essv43628, essv33566, essv54501, essv42407, essv35969, essv68531, essv81204
SamplesNA18861, NA19114, NA11931, NA18505, NA19147, NA12414, NA11894, NA19190, NA19129, NA18502, NA18858, NA18907, NA18909, NA19099, NA19225, NA11993
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
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)esv10880
Frequency
Sample Size40
Observed Gain14
Observed Loss2
Observed Complex0
Frequencyn/a


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