A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857812



Internal ID5592976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46119678..46129156hg38UCSC Ensembl
Innerchr18:46119694..46129141hg38UCSC Ensembl
Outerchr18:46119663..46129172hg38UCSC Ensembl
chr18:43699644..43709122hg19UCSC Ensembl
Innerchr18:43699660..43709107hg19UCSC Ensembl
Outerchr18:43699629..43709138hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg389479
hg199479
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642427
Supporting Variants
SamplesNA19028
Known GenesHAUS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857812
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