A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647159



Internal ID7033900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46038912..46041820hg38UCSC Ensembl
Innerchr21:46038912..46041820hg38UCSC Ensembl
Outerchr21:46038670..46042131hg38UCSC Ensembl
chr21:47458826..47461734hg19UCSC Ensembl
Innerchr21:47458826..47461734hg19UCSC Ensembl
Outerchr21:47458584..47462045hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382909
hg192909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16343594, essv16343598, essv16343595, essv16343596, essv16343597
SamplesHG02652, HG03945, HG03991, HG03689, HG03856
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647159
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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