A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132521



Internal ID6607748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20549443..20576924hg38UCSC Ensembl
chr8:20406954..20434435hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3827482
hg1927482
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616573
Supporting Variants
SamplesNA20774
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132521
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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