A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25563



Internal ID94223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31237024..31240317hg19UCSC Ensembl
Innerchr6:31345003..31348296hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsesv20367, esv12719
SamplesNA19108, NA12414, NA19190, NA12006
Known GenesHLA-C
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)esv25563
Frequency
Sample Size451
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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