A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5998003



Internal ID8975406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49954834..49960097hg38UCSC Ensembl
Outerchr22:49954677..49960250hg38UCSC Ensembl
Innerchr22:50348482..50353745hg19UCSC Ensembl
Outerchr22:50348325..50353898hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385574
hg195574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661343
Supporting Variants
SamplesNA18616
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5998003
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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