A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13208877



Internal ID4075374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59813292..59816310hg38UCSC Ensembl
Innerchr8:59813306..59816297hg38UCSC Ensembl
Outerchr8:59813279..59816324hg38UCSC Ensembl
chr8:60725851..60728869hg19UCSC Ensembl
Innerchr8:60725865..60728856hg19UCSC Ensembl
Outerchr8:60725838..60728883hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383019
hg193019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617361
Supporting Variants
SamplesHG03708
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13208877
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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