A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14415



Internal ID11031649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32537553..32626580hg38UCSC Ensembl
Innerchr6:32505330..32594357hg19UCSC Ensembl
Innerchr6:32613308..32702335hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3889028
hg1989028
hg1889028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv41074, essv69827, essv66035, essv34321, essv67322, essv80991, essv62027
SamplesNA18502, NA11995, NA12044, NA12828, NA12878, NA12239, NA19240
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)esv14415
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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