A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214312



Internal ID600985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66208510..66209482hg38UCSC Ensembl
Innerchr8:66208511..66209482hg38UCSC Ensembl
Outerchr8:66208510..66209483hg38UCSC Ensembl
chr8:67120745..67121717hg19UCSC Ensembl
Innerchr8:67120746..67121717hg19UCSC Ensembl
Outerchr8:67120745..67121718hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617480
Supporting Variants
SamplesHG00262
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer