A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15846607



Internal ID653005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39051856..39072723hg38UCSC Ensembl
chr18:36631820..36652687hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3820868
hg1920868
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642270
Supporting Variants
SamplesHG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15846607
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