A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14804



Internal ID11032038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8009370..8034242hg38UCSC Ensembl
Innerchr8:7866892..7891764hg19UCSC Ensembl
Innerchr8:7904302..7929174hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3824873
hg1924873
hg1824873
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25631
Supporting Variantsessv78536, essv64109, essv71551, essv83035, essv62621, essv37240, essv57566, essv44647, essv53105, essv54449, essv78678, essv75697, essv67252, essv40553, essv60685, essv45615, essv80322, essv39610, essv82114, essv43146, essv69323
SamplesNA12489, NA18523, NA19114, NA12828, NA15510, NA12044, NA12287, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA07045, NA19129, NA06985, NA18909, NA12749, NA19099, NA12878, NA11993
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)esv14804
Frequency
Sample Size40
Observed Gain13
Observed Loss8
Observed Complex0
Frequencyn/a


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