A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15893636



Internal ID5895452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57772414..57780227hg38UCSC Ensembl
Innerchr18:57772414..57780227hg38UCSC Ensembl
Outerchr18:57772166..57780506hg38UCSC Ensembl
chr18:55439646..55447459hg19UCSC Ensembl
Innerchr18:55439646..55447459hg19UCSC Ensembl
Outerchr18:55439398..55447738hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg387814
hg197814
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642637
Supporting Variants
SamplesHG03871
Known GenesATP8B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15893636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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