A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16330365



Internal ID5530764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44277391..44282551hg38UCSC Ensembl
Innerchr21:44277407..44282536hg38UCSC Ensembl
Outerchr21:44277376..44282567hg38UCSC Ensembl
chr21:45697274..45702434hg19UCSC Ensembl
Innerchr21:45697290..45702419hg19UCSC Ensembl
Outerchr21:45697259..45702450hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385161
hg195161
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647128
Supporting Variants
SamplesNA18998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16330365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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