A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16321923



Internal ID4541610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40901287..40904282hg38UCSC Ensembl
Innerchr21:40901287..40904282hg38UCSC Ensembl
Outerchr21:40901079..40904517hg38UCSC Ensembl
chr21:42273213..42276208hg19UCSC Ensembl
Innerchr21:42273213..42276208hg19UCSC Ensembl
Outerchr21:42273005..42276443hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382996
hg192996
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647050
Supporting Variants
SamplesHG04035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16321923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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