A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693324



Internal ID15035504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45979308..45981306hg38UCSC Ensembl
Innerchr22:45980306..45980308hg38UCSC Ensembl
Outerchr22:45978308..45982306hg38UCSC Ensembl
chr22:46375188..46377186hg19UCSC Ensembl
Innerchr22:46376186..46376188hg19UCSC Ensembl
Outerchr22:46374188..46378186hg19UCSC Ensembl
chr22:44753852..44755850hg18UCSC Ensembl
Innerchr22:44754852..44754850hg18UCSC Ensembl
Outerchr22:44752852..44756850hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3403164
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693324
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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