A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647208



Internal ID6687263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17069325..17142761hg38UCSC Ensembl
Innerchr22:17069475..17142611hg38UCSC Ensembl
Outerchr22:17069175..17142911hg38UCSC Ensembl
chr22:17550215..17623651hg19UCSC Ensembl
Innerchr22:17550365..17623501hg19UCSC Ensembl
Outerchr22:17550065..17623801hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3873437
hg1973437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16352243
SamplesHG02728
Known GenesCECR5, CECR6, IL17RA, LOC100996342
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647208
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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