A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13149677



Internal ID3151493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26737549..26747280hg38UCSC Ensembl
Innerchr8:26737582..26747248hg38UCSC Ensembl
Outerchr8:26737517..26747313hg38UCSC Ensembl
chr8:26595066..26604797hg19UCSC Ensembl
Innerchr8:26595099..26604765hg19UCSC Ensembl
Outerchr8:26595034..26604830hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg389732
hg199732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616704
Supporting Variants
SamplesHG01396
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13149677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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