A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18770



Internal ID11036004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32444130..32812059hg38UCSC Ensembl
Innerchr6:32411907..32779836hg19UCSC Ensembl
Innerchr6:32519885..32887814hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38367930
hg19367930
hg18367930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv78375, essv57700, essv64854, essv82097, essv51920
SamplesNA11993, NA07045, NA19114, NA06985, NA12006
Known GenesHLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6
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)esv18770
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer