A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319973



Internal ID3022951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37482235..37483226hg38UCSC Ensembl
Innerchr21:37482285..37483176hg38UCSC Ensembl
Outerchr21:37482185..37483276hg38UCSC Ensembl
chr21:38854537..38855528hg19UCSC Ensembl
Innerchr21:38854587..38855478hg19UCSC Ensembl
Outerchr21:38854487..38855578hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646991
Supporting Variants
SamplesHG02660
Known GenesDYRK1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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