A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16086658



Internal ID6088474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52872851..52937955hg38UCSC Ensembl
chr19:53376104..53441208hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3865105
hg1965105
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644727
Supporting Variants
SamplesHG01807
Known GenesZNF320, ZNF321P, ZNF816-ZNF321P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16086658
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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