A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671518



Internal ID4715852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42625416..42626099hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5900956, essv5869513, essv5396404, essv6372959, essv5493400, essv5605045, essv6597187, essv5509441, essv6183856, essv6360086
SamplesNA19819, NA11918, NA18511, NA18516, NA18547, NA18916, NA19190, NA18498, NA19238, NA19240
Known GenesSETBP1
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671518
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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