A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857781



Internal ID5859597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46089973..46212137hg38UCSC Ensembl
chr18:43669939..43792103hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38122165
hg19122165
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642424
Supporting Variants
SamplesHG02585
Known GenesATP5A1, C18orf25, HAUS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857781
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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