A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19515



Internal ID11036749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:134461813..134467736hg38UCSC Ensembl
Innerchr8:135474056..135479979hg19UCSC Ensembl
Innerchr8:135543238..135549161hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385924
hg195924
hg185924
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25822
Supporting Variantsessv46273, essv61618, essv64431, essv70817, essv68984, essv48178
SamplesNA18916, NA07045, NA12239, NA18858, NA07037, NA19129
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)esv19515
Frequency
Sample Size40
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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