A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9939



Internal ID11047378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32635735..32696757hg38UCSC Ensembl
Innerchr6:32603512..32664534hg19UCSC Ensembl
Innerchr6:32711490..32772512hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3861023
hg1961023
hg1861023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv48693, essv40828, essv79611, essv35237, essv60834, essv55826, essv66686, essv46211
SamplesNA12828, NA12878, NA18907, NA18523, NA07037, NA12749, NA19129, NA12776
Known GenesHLA-DQA1, HLA-DQB1
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)esv9939
Frequency
Sample Size40
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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