A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16325130



Internal ID6695469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42947108..42958722hg38UCSC Ensembl
Innerchr21:42947122..42958709hg38UCSC Ensembl
Outerchr21:42947095..42958736hg38UCSC Ensembl
chr21:44367218..44378832hg19UCSC Ensembl
Innerchr21:44367232..44378819hg19UCSC Ensembl
Outerchr21:44367205..44378846hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811615
hg1911615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647096
Supporting Variants
SamplesNA20822
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16325130
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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