A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13302958



Internal ID6067132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119136418..119142141hg38UCSC Ensembl
chr8:120148657..120154380hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385724
hg195724
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618591
Supporting Variants
SamplesNA19456
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13302958
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