A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16457794



Internal ID4570796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49830895..49834414hg38UCSC Ensembl
Innerchr22:49830948..49834361hg38UCSC Ensembl
Outerchr22:49830842..49834467hg38UCSC Ensembl
chr22:50224543..50228062hg19UCSC Ensembl
Innerchr22:50224596..50228009hg19UCSC Ensembl
Outerchr22:50224490..50228115hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383520
hg193520
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648073
Supporting Variants
SamplesHG04076
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16457794
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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