A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397222



Internal ID15244185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41150155..41151053hg38UCSC Ensembl
Innerchr21:41150154..41151054hg38UCSC Ensembl
Outerchr21:41149155..41152053hg38UCSC Ensembl
chr21:42522082..42522980hg19UCSC Ensembl
Innerchr21:42522081..42522981hg19UCSC Ensembl
Outerchr21:42521082..42523980hg19UCSC Ensembl
chr21:41443952..41444850hg18UCSC Ensembl
Innerchr21:41444851..41443951hg18UCSC Ensembl
Outerchr21:41442952..41445850hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692692
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397222
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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