A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647050



Internal ID7033792
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16321922, essv16321923
SamplesHG03679, HG04035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647050
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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