A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22833



Internal ID93667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:17094457..17101612hg19UCSC Ensembl
Innerchr10:17134463..17141618hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv14050
SamplesNA11995
Known GenesCUBN
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)esv22833
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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