A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648080



Internal ID6688131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50013481..50024531hg38UCSC Ensembl
chr22:50451910..50462960hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811051
hg1911051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv849e214
Supporting Variantsessv16462224, essv16462221, essv16462222, essv16462218, essv16462217, essv16462220, essv16462223, essv16462219
SamplesHG00351, NA18642, NA21109, HG01628, HG02090, NA19913, NA19149, NA19439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648080
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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