A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313457



Internal ID6625887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32381912..32387000hg38UCSC Ensembl
Innerchr21:32381959..32386953hg38UCSC Ensembl
Outerchr21:32381865..32387047hg38UCSC Ensembl
chr21:33754221..33759309hg19UCSC Ensembl
Innerchr21:33754268..33759262hg19UCSC Ensembl
Outerchr21:33754174..33759356hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg385089
hg195089
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646883
Supporting Variants
SamplesNA20790
Known GenesURB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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