A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13113845



Internal ID1886691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13179837..13193651hg38UCSC Ensembl
chr8:13037346..13051160hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3813815
hg1913815
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616300
Supporting Variants
SamplesHG01776
Known GenesDLC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13113845
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