A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647059



Internal ID6687115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41346028..41351972hg38UCSC Ensembl
Innerchr21:41346028..41351972hg38UCSC Ensembl
Outerchr21:41345786..41352236hg38UCSC Ensembl
chr21:42717955..42723899hg19UCSC Ensembl
Innerchr21:42717955..42723899hg19UCSC Ensembl
Outerchr21:42717713..42724163hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385945
hg195945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16323573, essv16323575, essv16323576, essv16323574, essv16323572
SamplesHG01953, HG02345, HG02304, HG02291, HG02006
Known GenesFAM3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647059
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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