A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5401616



Internal ID9469058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17460990..17465655hg38UCSC Ensembl
Outerchr22:17460953..17465705hg38UCSC Ensembl
Innerchr22:17940027..17944693hg19UCSC Ensembl
Outerchr22:17939990..17944743hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384753
hg194754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677375
Supporting Variants
SamplesNA18940
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5401616
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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