A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319960



Internal ID4937147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37312613..37316405hg38UCSC Ensembl
Innerchr21:37312663..37316355hg38UCSC Ensembl
Outerchr21:37312563..37316455hg38UCSC Ensembl
chr21:38684915..38688707hg19UCSC Ensembl
Innerchr21:38684965..38688657hg19UCSC Ensembl
Outerchr21:38684865..38688757hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383793
hg193793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646987
Supporting Variants
SamplesNA12777
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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