A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080431



Internal ID3082247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6933457..6940632hg38UCSC Ensembl
Innerchr8:6933511..6940579hg38UCSC Ensembl
Outerchr8:6933404..6940686hg38UCSC Ensembl
chr8:6790979..6798154hg19UCSC Ensembl
Innerchr8:6791033..6798101hg19UCSC Ensembl
Outerchr8:6790926..6798208hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387176
hg197176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616103
Supporting Variants
SamplesHG00323
Known GenesDEFA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080431
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