A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142887



Internal ID4998806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12088481..12144596hg38UCSC Ensembl
chr20:12069129..12125244hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3856116
hg1956116
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645242
Supporting Variants
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142887
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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