A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153167



Internal ID6851181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28250180..28251208hg38UCSC Ensembl
Innerchr8:28250216..28251173hg38UCSC Ensembl
Outerchr8:28250145..28251244hg38UCSC Ensembl
chr8:28107697..28108725hg19UCSC Ensembl
Innerchr8:28107733..28108690hg19UCSC Ensembl
Outerchr8:28107662..28108761hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616736
Supporting Variants
SamplesNA21087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153167
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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