A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857868



Internal ID5859684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46702717..46830266hg38UCSC Ensembl
Innerchr18:46702867..46830116hg38UCSC Ensembl
Outerchr18:46702567..46830416hg38UCSC Ensembl
chr18:44282680..44410229hg19UCSC Ensembl
Innerchr18:44282830..44410079hg19UCSC Ensembl
Outerchr18:44282530..44410379hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38127550
hg19127550
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642439
Supporting Variants
SamplesHG03837
Known GenesPIAS2, ST8SIA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857868
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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