A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11565



Internal ID11375484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188015057..188017123hg38UCSC Ensembl
Innerchr3:187732845..187734911hg19UCSC Ensembl
Innerchr3:189215539..189217605hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg382067
hg192067
hg182067
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23108
Supporting Variantsessv38721, essv35593, essv75257, essv46693, essv57386, essv51286, essv75417, essv68223, essv83119, essv55226, essv49215, essv44611, essv49941, essv65870, essv72136, essv59033, essv78774, essv78617, essv60872, essv80370, essv52461, essv70642, essv67350, essv32376, essv42968, essv81671, essv34263, essv47126, essv41469, essv37248
SamplesNA18502, NA11995, NA18861, NA12414, NA11931, NA12004, NA19190, NA18916, NA12828, NA11993, NA12489, NA18907, NA19114, NA11894, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006
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)esv11565
Frequency
Sample Size40
Observed Gain29
Observed Loss1
Observed Complex0
Frequencyn/a


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