A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646963



Internal ID7033705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36140606..36213380hg38UCSC Ensembl
chr21:37512904..37585678hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3872775
hg1972775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16319373
SamplesHG02277
Known GenesCBR3, CBR3-AS1, DOPEY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646963
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