A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642635



Internal ID6682715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57678727..57681616hg38UCSC Ensembl
Innerchr18:57678776..57681568hg38UCSC Ensembl
Outerchr18:57678679..57681665hg38UCSC Ensembl
chr18:55345959..55348848hg19UCSC Ensembl
Innerchr18:55346008..55348800hg19UCSC Ensembl
Outerchr18:55345911..55348897hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15892931, essv15892930
SamplesHG02549, HG02337
Known GenesATP8B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642635
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer