A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616161



Internal ID7003048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8978882..8979585hg38UCSC Ensembl
Innerchr8:8978882..8979585hg38UCSC Ensembl
Outerchr8:8978678..8979825hg38UCSC Ensembl
chr8:8836392..8837095hg19UCSC Ensembl
Innerchr8:8836392..8837095hg19UCSC Ensembl
Outerchr8:8836188..8837335hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13093750, essv13093748, essv13093752, essv13093749, essv13093747, essv13093753, essv13093751
SamplesHG03548, HG03558, NA19920, HG03224, HG02315, HG03539, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616161
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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