A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21820



Internal ID106694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134391024..134391858hg19UCSC Ensembl
Innerchr9:133380845..133381679hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv20681
SamplesNA18523
Known GenesPOMT1
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)esv21820
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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