A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13078757



Internal ID3780525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6020418..6283884hg38UCSC Ensembl
Innerchr8:6020430..6283872hg38UCSC Ensembl
Outerchr8:6020406..6283896hg38UCSC Ensembl
chr8:5877940..6141405hg19UCSC Ensembl
Innerchr8:5877952..6141393hg19UCSC Ensembl
Outerchr8:5877928..6141417hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38263467
hg19263466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616066
Supporting Variants
SamplesHG03432
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13078757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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