A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15933334



Internal ID813297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:72671222..72676189hg38UCSC Ensembl
Innerchr18:72671244..72676168hg38UCSC Ensembl
Outerchr18:72671201..72676211hg38UCSC Ensembl
chr18:70338457..70343424hg19UCSC Ensembl
Innerchr18:70338479..70343403hg19UCSC Ensembl
Outerchr18:70338436..70343446hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg384968
hg194968
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643064
Supporting Variants
SamplesHG00384
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15933334
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