A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320676



Internal ID4581631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37975815..38051566hg38UCSC Ensembl
chr21:39348117..39423868hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3875752
hg1975752
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646996
Supporting Variants
SamplesHG04094
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320676
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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