A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313708



Internal ID3561374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34158043..34160541hg38UCSC Ensembl
Innerchr21:34158086..34160499hg38UCSC Ensembl
Outerchr21:34158001..34160584hg38UCSC Ensembl
chr21:35530343..35532841hg19UCSC Ensembl
Innerchr21:35530386..35532799hg19UCSC Ensembl
Outerchr21:35530301..35532884hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382499
hg192499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646918
Supporting Variants
SamplesHG03139
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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