A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645643



Internal ID7032392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31216220..31271589hg38UCSC Ensembl
chr20:29804050..29859392hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3855370
hg1955343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16173373, essv16173368, essv16173371, essv16173369, essv16173372, essv16173370
SamplesNA18645, HG04180, NA19309, HG04141, HG03279, HG04153
Known GenesDEFB115
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645643
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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