A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693351



Internal ID15116412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49900300..49903098hg38UCSC Ensembl
Innerchr22:49901300..49902098hg38UCSC Ensembl
Outerchr22:49899300..49904098hg38UCSC Ensembl
chr22:50293948..50296746hg19UCSC Ensembl
Innerchr22:50294948..50295746hg19UCSC Ensembl
Outerchr22:50292948..50297746hg19UCSC Ensembl
chr22:48679952..48682750hg18UCSC Ensembl
Innerchr22:48680952..48681750hg18UCSC Ensembl
Outerchr22:48678952..48683750hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340094
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693351
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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