A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22280



Internal ID94133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42624662..42626047hg19UCSC Ensembl
Innerchr18:40878660..40880045hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv11079, esv15316
SamplesNA18916, NA19190
Known GenesSETBP1
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)esv22280
Frequency
Sample Size451
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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