A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646458



Internal ID7033202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16551914..16554651hg38UCSC Ensembl
Innerchr21:16551933..16554633hg38UCSC Ensembl
Outerchr21:16551896..16554670hg38UCSC Ensembl
chr21:17924234..17926971hg19UCSC Ensembl
Innerchr21:17924253..17926953hg19UCSC Ensembl
Outerchr21:17924216..17926990hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382738
hg192738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16268910
SamplesHG02278
Known GenesLINC00478
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646458
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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