A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24803



Internal ID111863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20650177..20651772hg19UCSC Ensembl
Innerchr13:19548177..19549772hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv11011
SamplesNA19257, NA18916, NA18502, NA18858, NA18907
Known GenesZMYM2
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)esv24803
Frequency
Sample Size451
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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