A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313543



Internal ID5084576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32776679..32788671hg38UCSC Ensembl
Innerchr21:32776679..32788671hg38UCSC Ensembl
Outerchr21:32776361..32788959hg38UCSC Ensembl
chr21:34148990..34160982hg19UCSC Ensembl
Innerchr21:34148990..34160982hg19UCSC Ensembl
Outerchr21:34148672..34161270hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3811993
hg1911993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646894
Supporting Variants
SamplesNA18546
Known GenesC21orf49
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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