A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16445851



Internal ID5655226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47177986..47179619hg38UCSC Ensembl
Innerchr22:47177986..47179619hg38UCSC Ensembl
Outerchr22:47177819..47179722hg38UCSC Ensembl
chr22:47573739..47575372hg19UCSC Ensembl
Innerchr22:47573739..47575372hg19UCSC Ensembl
Outerchr22:47573572..47575475hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381634
hg191634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647974
Supporting Variants
SamplesNA19068
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16445851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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