A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648069



Internal ID7034806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49723146..49724368hg38UCSC Ensembl
Innerchr22:49723161..49724354hg38UCSC Ensembl
Outerchr22:49723132..49724383hg38UCSC Ensembl
chr22:50116794..50118016hg19UCSC Ensembl
Innerchr22:50116809..50118002hg19UCSC Ensembl
Outerchr22:50116780..50118031hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16457775, essv16457774
SamplesHG03385, HG03380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648069
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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