A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22467



Internal ID11039700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33055021..33087568hg38UCSC Ensembl
Innerchr6:33022798..33055345hg19UCSC Ensembl
Innerchr6:33130776..33163323hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3832548
hg1932548
hg1832548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10362, esv12728, esv20362, esv18715, esv10448
SamplesNA18861, NA07037, NA18523, NA19114, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA19147, NA18508, NA18916, NA19190, NA19129, NA18502, NA18858, NA18907, NA18909, NA12749, NA19099, NA19225, NA19240
Known GenesHLA-DPA1, HLA-DPB1
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)esv22467
Frequency
Sample Size40
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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