A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450955



Internal ID14951216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876886..17877684hg38UCSC Ensembl
Innerchr22:17876885..17877685hg38UCSC Ensembl
Outerchr22:17875886..17878684hg38UCSC Ensembl
chr22:18359652..18360450hg19UCSC Ensembl
Innerchr22:18359651..18360451hg19UCSC Ensembl
Outerchr22:18358652..18361450hg19UCSC Ensembl
chr22:16739652..16740450hg18UCSC Ensembl
Innerchr22:16740451..16739651hg18UCSC Ensembl
Outerchr22:16738652..16741450hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693043
SamplesNA19240
Known GenesMICAL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450955
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer