A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618145



Internal ID7005028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98067654..98069396hg38UCSC Ensembl
Innerchr8:98067654..98069396hg38UCSC Ensembl
Outerchr8:98067369..98069699hg38UCSC Ensembl
chr8:99079882..99081624hg19UCSC Ensembl
Innerchr8:99079882..99081624hg19UCSC Ensembl
Outerchr8:99079597..99081927hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13267316, essv13267318, essv13267317
SamplesHG01840, HG02190, NA18553
Known GenesC8orf47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618145
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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