A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13185986



Internal ID3634905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42784956..42785931hg38UCSC Ensembl
Innerchr8:42784988..42785900hg38UCSC Ensembl
Outerchr8:42784925..42785963hg38UCSC Ensembl
chr8:42640099..42641074hg19UCSC Ensembl
Innerchr8:42640131..42641043hg19UCSC Ensembl
Outerchr8:42640068..42641106hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617021
Supporting Variants
SamplesHG03234
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13185986
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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