A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693215



Internal ID13740253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21219263..21221761hg38UCSC Ensembl
Innerchr22:21220263..21220761hg38UCSC Ensembl
Outerchr22:21218263..21222761hg38UCSC Ensembl
chr22:21573552..21576050hg19UCSC Ensembl
Innerchr22:21574552..21575050hg19UCSC Ensembl
Outerchr22:21572552..21577050hg19UCSC Ensembl
chr22:19903552..19906050hg18UCSC Ensembl
Innerchr22:19904552..19905050hg18UCSC Ensembl
Outerchr22:19902552..19907050hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361946
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693215
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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