A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16306



Internal ID11033540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31980345..32046264hg38UCSC Ensembl
Innerchr6:31948122..32014041hg19UCSC Ensembl
Innerchr6:32056101..32122019hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3865920
hg1965920
hg1865919
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28110
Supporting Variantsessv73729, essv41111, essv41388, essv82082, essv75037, essv66946, essv37508, essv60152
SamplesNA12004, NA12156, NA12828, NA12878, NA19114, NA11894, NA18523, NA18505
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
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)esv16306
Frequency
Sample Size40
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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