A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16154997



Internal ID4852111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19190916..19202208hg38UCSC Ensembl
chr20:19171560..19182852hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3811293
hg1911293
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645453
Supporting Variants
SamplesNA12272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16154997
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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