A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320742



Internal ID4384605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38763971..38771852hg38UCSC Ensembl
Innerchr21:38763971..38771852hg38UCSC Ensembl
Outerchr21:38763779..38772045hg38UCSC Ensembl
chr21:40135895..40143776hg19UCSC Ensembl
Innerchr21:40135895..40143776hg19UCSC Ensembl
Outerchr21:40135703..40143969hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg387882
hg197882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647009
Supporting Variants
SamplesHG03908
Known GenesLINC00114
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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