A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16081536



Internal ID4767896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51785765..51953257hg38UCSC Ensembl
chr19:52289018..52456510hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38167493
hg19167493
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644680
Supporting Variants
SamplesNA11832
Known GenesFPR3, HCCAT3, ZNF577, ZNF613, ZNF649
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16081536
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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