A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857777



Internal ID5859593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45996630..46208987hg38UCSC Ensembl
Innerchr18:45996780..46208837hg38UCSC Ensembl
Outerchr18:45996480..46209137hg38UCSC Ensembl
chr18:43576596..43788953hg19UCSC Ensembl
Innerchr18:43576746..43788803hg19UCSC Ensembl
Outerchr18:43576446..43789103hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38212358
hg19212358
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642420
Supporting Variants
SamplesHG02585
Known GenesATP5A1, C18orf25, HAUS1, PSTPIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857777
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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