A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934227



Internal ID4851862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75167915..75176478hg38UCSC Ensembl
Innerchr18:75167915..75176478hg38UCSC Ensembl
Outerchr18:75167728..75176639hg38UCSC Ensembl
chr18:72879870..72888433hg19UCSC Ensembl
Innerchr18:72879870..72888433hg19UCSC Ensembl
Outerchr18:72879683..72888594hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg388564
hg198564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643136
Supporting Variants
SamplesNA12272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934227
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