A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173377



Internal ID4618451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31257358..31413171hg38UCSC Ensembl
chr20:29845161..30000974hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38155814
hg19155814
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645645
Supporting Variants
SamplesHG04153
Known GenesDEFB115, DEFB116, DEFB118, DEFB119, DEFB121
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173377
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer