A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056354



Internal ID6058170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42738606..42795111hg38UCSC Ensembl
chr19:43242758..43299263hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856506
hg1956506
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644407
Supporting Variants
SamplesHG04096
Known GenesPSG3, PSG8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056354
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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