A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693213



Internal ID15035144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21217863..21220061hg38UCSC Ensembl
Innerchr22:21218863..21219061hg38UCSC Ensembl
Outerchr22:21216863..21221061hg38UCSC Ensembl
chr22:21572152..21574350hg19UCSC Ensembl
Innerchr22:21573152..21573350hg19UCSC Ensembl
Outerchr22:21571152..21575350hg19UCSC Ensembl
chr22:19902152..19904350hg18UCSC Ensembl
Innerchr22:19903152..19903350hg18UCSC Ensembl
Outerchr22:19901152..19905350hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386843
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693213
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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