A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15892931



Internal ID5894747
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642635
Supporting Variants
SamplesHG02549
Known GenesATP8B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15892931
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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