A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13281022



Internal ID1098111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108264461..108267840hg38UCSC Ensembl
Innerchr8:108264498..108267804hg38UCSC Ensembl
Outerchr8:108264425..108267877hg38UCSC Ensembl
chr8:109276690..109280069hg19UCSC Ensembl
Innerchr8:109276727..109280033hg19UCSC Ensembl
Outerchr8:109276654..109280106hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg383380
hg193380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618351
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13281022
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