A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647110



Internal ID6687166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43619564..43664681hg38UCSC Ensembl
chr21:45039445..45084562hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3845118
hg1945118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16328902
SamplesHG03433
Known GenesHSF2BP, RRP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647110
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