A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22986



Internal ID11040219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12038835..12203976hg38UCSC Ensembl
Innerchr8:11896344..12061857hg19UCSC Ensembl
Innerchr8:11933753..12099266hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38165142
hg19165514
hg18165514
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16469, esv18396, esv15221, esv17659, esv13265, esv14566, esv17014, esv12427, esv15075
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesDEFB130, FAM66D, FAM86B1, FAM90A2P, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
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)esv22986
Frequency
Sample Size40
Observed Gain37
Observed Loss7
Observed Complex0
Frequencyn/a


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