A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17458



Internal ID11034692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7774625..7902094hg38UCSC Ensembl
Innerchr8:7632147..7759616hg19UCSC Ensembl
Innerchr8:7669557..7797026hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38127470
hg19127470
hg18127470
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25631
Supporting Variantsessv66180, essv50172
SamplesNA18517, NA19240
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B
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)esv17458
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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