A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13308991



Internal ID4297301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122677641..122679026hg38UCSC Ensembl
Innerchr8:122677691..122678976hg38UCSC Ensembl
Outerchr8:122677591..122679076hg38UCSC Ensembl
chr8:123689880..123691265hg19UCSC Ensembl
Innerchr8:123689930..123691215hg19UCSC Ensembl
Outerchr8:123689830..123691315hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618657
Supporting Variants
SamplesHG03857
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13308991
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