A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17529



Internal ID11381448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:23743050..23745832hg38UCSC Ensembl
Innerchr6:23743278..23746060hg19UCSC Ensembl
Innerchr6:23851257..23854039hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg382783
hg192783
hg182783
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29906
Supporting Variantsessv54375, essv38027, essv68244, essv53131, essv36937, essv78128, essv49539, essv45292, essv81788, essv70600, essv76868, essv47401, essv33379, essv42409, essv40222, essv42725, essv59881, essv35710, essv79359, essv58900, essv57470, essv61863, essv79970, essv65686, essv52561, essv45114, essv48807, essv74856, essv63247, essv39205, essv72339, essv33930, essv73506
SamplesNA18502, NA11995, NA18861, NA18508, NA12004, NA18916, NA12287, NA12156, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511
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)esv17529
Frequency
Sample Size40
Observed Gain32
Observed Loss1
Observed Complex0
Frequencyn/a


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