A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855551



Internal ID4758319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41800479..41854036hg38UCSC Ensembl
Innerchr18:41800489..41854027hg38UCSC Ensembl
Outerchr18:41800470..41854046hg38UCSC Ensembl
chr18:39380444..39434001hg19UCSC Ensembl
Innerchr18:39380454..39433992hg19UCSC Ensembl
Outerchr18:39380435..39434011hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3853558
hg1953558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642338
Supporting Variants
SamplesNA11829
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855551
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer