A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22115



Internal ID93995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23764388..23769266hg19UCSC Ensembl
Innerchr13:22662388..22667266hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv20275
SamplesNA12414, NA07045
Known GenesSGCG
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)esv22115
Frequency
Sample Size451
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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