A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669993



Internal ID9936098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32915724..32921298hg38UCSC Ensembl
Innerchr18:30495688..30501262hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385575
hg195575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5710826, essv6362285
SamplesNA12891, NA12878
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669993
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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