A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17746



Internal ID11034980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32613927..32626615hg38UCSC Ensembl
Innerchr6:32581704..32594392hg19UCSC Ensembl
Innerchr6:32689682..32702370hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3812689
hg1912689
hg1812689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21985
Supporting Variantsessv62329, essv32204, essv60018, essv58530, essv68286, essv43949
SamplesNA15510, NA18523, NA18858, NA18909, NA19108, NA19147
Known Genes
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)esv17746
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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