A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5493919



Internal ID9447360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:22818843..22821288hg38UCSC Ensembl
Outerchr18:22818686..22821441hg38UCSC Ensembl
Innerchr18:20398806..20401251hg19UCSC Ensembl
Outerchr18:20398649..20401404hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382756
hg192756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662047
Supporting Variants
SamplesNA18867
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5493919
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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