A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13333944



Internal ID6362411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131648971..131719766hg38UCSC Ensembl
chr8:132661218..132732013hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3870796
hg1970796
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618856
Supporting Variants
SamplesNA20294
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13333944
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