A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647023



Internal ID6687079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39622244..39639254hg38UCSC Ensembl
Innerchr21:39622244..39639254hg38UCSC Ensembl
Outerchr21:39621744..39639754hg38UCSC Ensembl
chr21:40994171..41011181hg19UCSC Ensembl
Innerchr21:40994171..41011181hg19UCSC Ensembl
Outerchr21:40993671..41011681hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3817011
hg1917011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16320984
SamplesHG04022
Known GenesB3GALT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647023
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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