A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15900426



Internal ID4572809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61671387..61679233hg38UCSC Ensembl
Innerchr18:61671387..61679233hg38UCSC Ensembl
Outerchr18:61671154..61679533hg38UCSC Ensembl
chr18:59338620..59346466hg19UCSC Ensembl
Innerchr18:59338620..59346466hg19UCSC Ensembl
Outerchr18:59338387..59346766hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg387847
hg197847
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642735
Supporting Variants
SamplesHG04076
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15900426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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