A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644783



Internal ID6684847
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16091204, essv16091203, essv16091208, essv16091206, essv16091207, essv16091205
SamplesHG01777, HG01551, HG01699, HG01464, HG01951, HG02095
Known GenesCNOT3, LENG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644783
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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