A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25267



Internal ID108050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:121055909..121057105hg19UCSC Ensembl
Innerchr11:120561119..120562315hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv11143
SamplesNA12489, NA12828, NA12414, NA12004, NA11894, NA11995, NA12006, NA18909, NA12156, NA12878
Known GenesTECTA
Method
AnalysisAt the top level of the hierarchy, all contiguous bases overlapping at least 1bp of a CNV call are merged into a “CNV region” (CNVR).
PlatformSanger H. Sapiens NimbleGen 42M CGH Array
Comments
ReferenceConrad et al 2009
Pubmed ID19812545
Accession Number(s)esv25267
Frequency
Sample Size451
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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