A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22373



Internal ID109449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161543172..161543860hg19UCSC Ensembl
Innerchr5:161475750..161476438hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv20499
SamplesNA19190
Known GenesGABRG2
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)esv22373
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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