A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319817



Internal ID5607829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36820448..36821329hg38UCSC Ensembl
Innerchr21:36820596..36821279hg38UCSC Ensembl
Outerchr21:36820398..36821379hg38UCSC Ensembl
chr21:38192748..38193629hg19UCSC Ensembl
Innerchr21:38192896..38193579hg19UCSC Ensembl
Outerchr21:38192698..38193679hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646978
Supporting Variants
SamplesNA19037
Known GenesHLCS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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