A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12730



Internal ID11376649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32554334..32584167hg38UCSC Ensembl
Innerchr6:32522111..32551944hg19UCSC Ensembl
Innerchr6:32630089..32659922hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3829834
hg1929834
hg1829834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv35263, essv70752, essv46054, essv37793, essv78697
SamplesNA18916, NA18907, NA19257, NA12749, NA19129
Known GenesHLA-DRB1, 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)esv12730
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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