A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15858029



Internal ID5859845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46849452..46851103hg38UCSC Ensembl
Innerchr18:46849452..46851103hg38UCSC Ensembl
Outerchr18:46849176..46851369hg38UCSC Ensembl
chr18:44429415..44431066hg19UCSC Ensembl
Innerchr18:44429415..44431066hg19UCSC Ensembl
Outerchr18:44429139..44431332hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642444
Supporting Variants
SamplesHG02250
Known GenesPIAS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15858029
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