A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16325152



Internal ID1526286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43081083..43081913hg38UCSC Ensembl
Innerchr21:43081083..43081913hg38UCSC Ensembl
Outerchr21:43080755..43082233hg38UCSC Ensembl
chr21:44501193..44502023hg19UCSC Ensembl
Innerchr21:44501193..44502023hg19UCSC Ensembl
Outerchr21:44500865..44502343hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647099
Supporting Variants
SamplesHG01398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16325152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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