A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693214



Internal ID13685552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21217863..21227061hg38UCSC Ensembl
Innerchr22:21218863..21226061hg38UCSC Ensembl
Outerchr22:21216863..21228061hg38UCSC Ensembl
chr22:21572152..21581350hg19UCSC Ensembl
Innerchr22:21573152..21580350hg19UCSC Ensembl
Outerchr22:21571152..21582350hg19UCSC Ensembl
chr22:19902152..19911350hg18UCSC Ensembl
Innerchr22:19903152..19910350hg18UCSC Ensembl
Outerchr22:19901152..19912350hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg389199
hg199199
hg189199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440754
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693214
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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