A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11180



Internal ID11028414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29761604..29832289hg38UCSC Ensembl
Innerchr6:29729381..29800066hg19UCSC Ensembl
Innerchr6:29837360..29908045hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3870686
hg1970686
hg1870686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25966
Supporting Variantsessv83409, essv65446
SamplesNA19190, NA19240
Known GenesHCG4, HLA-G, LOC554223
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)esv11180
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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