A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15844546



Internal ID3430002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38564579..38565534hg38UCSC Ensembl
Innerchr18:38564579..38565534hg38UCSC Ensembl
Outerchr18:38564327..38565840hg38UCSC Ensembl
chr18:36144543..36145498hg19UCSC Ensembl
Innerchr18:36144543..36145498hg19UCSC Ensembl
Outerchr18:36144291..36145804hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38956
hg19956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642262
Supporting Variants
SamplesHG03064
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15844546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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