A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13272033



Internal ID3273849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104348329..104351274hg38UCSC Ensembl
Innerchr8:104348329..104351274hg38UCSC Ensembl
Outerchr8:104348064..104351531hg38UCSC Ensembl
chr8:105360557..105363502hg19UCSC Ensembl
Innerchr8:105360557..105363502hg19UCSC Ensembl
Outerchr8:105360292..105363759hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382946
hg192946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618273
Supporting Variants
SamplesHG03917
Known GenesDCSTAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13272033
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