A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15900101



Internal ID5841036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61469711..61483163hg38UCSC Ensembl
chr18:59136944..59150396hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3813453
hg1913453
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642730
Supporting Variants
SamplesNA19213
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15900101
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