A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645647



Internal ID7032396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31367312..31405042hg38UCSC Ensembl
chr20:29955115..29992845hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3837731
hg1937731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16173383, essv16173384
SamplesNA20538, HG03279
Known GenesDEFB118, DEFB119, DEFB121
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645647
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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