A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21483



Internal ID110874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:43572184..43585716hg19UCSC Ensembl
InnerchrX:43457128..43470660hg18UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv15847, esv11300
SamplesNA12828, NA12044
Known GenesMAOA
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)esv21483
Frequency
Sample Size451
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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