A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320983



Internal ID6322799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39615180..39640459hg38UCSC Ensembl
chr21:40987107..41012386hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3825280
hg1925280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647022
Supporting Variants
SamplesHG04022
Known GenesB3GALT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320983
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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