A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15784399



Internal ID5786216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5167150..5173741hg38UCSC Ensembl
Innerchr18:5167152..5173740hg38UCSC Ensembl
Outerchr18:5167149..5173743hg38UCSC Ensembl
chr18:5167149..5173740hg19UCSC Ensembl
Innerchr18:5167151..5173739hg19UCSC Ensembl
Outerchr18:5167148..5173742hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386592
hg196592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641645
Supporting Variants
SamplesHG04222
Known GenesC18orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15784399
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