A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10327



Internal ID11374246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7507383..7586225hg38UCSC Ensembl
Innerchr8:7364905..7443747hg19UCSC Ensembl
Innerchr8:7352315..7431157hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3878843
hg1978843
hg1878843
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21583
Supporting Variantsessv75484, essv83972, essv63592, essv80630, essv50684
SamplesNA11995, NA12414, NA11931, NA19190, NA07045
Known GenesDEFB107A, DEFB107B, FAM90A7P, PRR23D1, PRR23D2
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)esv10327
Frequency
Sample Size40
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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