A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16433316



Internal ID4678952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42860711..42870291hg38UCSC Ensembl
Innerchr22:42860729..42870274hg38UCSC Ensembl
Outerchr22:42860694..42870309hg38UCSC Ensembl
chr22:43256717..43266297hg19UCSC Ensembl
Innerchr22:43256735..43266280hg19UCSC Ensembl
Outerchr22:43256700..43266315hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389581
hg199581
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647843
Supporting Variants
SamplesHG04202
Known GenesPACSIN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16433316
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