A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13361749



Internal ID4408047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142143277..142152024hg38UCSC Ensembl
Innerchr8:142143304..142151998hg38UCSC Ensembl
Outerchr8:142143251..142152051hg38UCSC Ensembl
chr8:143224638..143233385hg19UCSC Ensembl
Innerchr8:143224665..143233359hg19UCSC Ensembl
Outerchr8:143224612..143233412hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388748
hg198748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619079
Supporting Variants
SamplesHG03925
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13361749
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