A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16447123



Internal ID2566817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47344683..47357529hg38UCSC Ensembl
Innerchr22:47344683..47357529hg38UCSC Ensembl
Outerchr22:47344525..47357630hg38UCSC Ensembl
chr22:47740433..47753279hg19UCSC Ensembl
Innerchr22:47740433..47753279hg19UCSC Ensembl
Outerchr22:47740275..47753380hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3812847
hg1912847
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647982
Supporting Variants
SamplesHG02278
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16447123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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