A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16091207



Internal ID6093023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54151022..54159664hg38UCSC Ensembl
chr19:54654759..54663402hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388643
hg198644
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644783
Supporting Variants
SamplesHG01951
Known GenesCNOT3, LENG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16091207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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