A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645232



Internal ID7031982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11822848..12011757hg38UCSC Ensembl
chr20:11803496..11992405hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38188910
hg19188910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16142780
SamplesNA18501
Known GenesBTBD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645232
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