A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16329050



Internal ID6330866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44138728..44139807hg38UCSC Ensembl
Innerchr21:44138738..44139798hg38UCSC Ensembl
Outerchr21:44138719..44139817hg38UCSC Ensembl
chr21:45558610..45559689hg19UCSC Ensembl
Innerchr21:45558620..45559680hg19UCSC Ensembl
Outerchr21:45558601..45559699hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647118
Supporting Variants
SamplesHG01870
Known GenesC21orf33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16329050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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