A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16457783



Internal ID6459599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49767845..49805738hg38UCSC Ensembl
Innerchr22:49767845..49805738hg38UCSC Ensembl
Outerchr22:49767345..49806238hg38UCSC Ensembl
chr22:50161493..50199386hg19UCSC Ensembl
Innerchr22:50161493..50199386hg19UCSC Ensembl
Outerchr22:50160993..50199886hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3837894
hg1937894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648071
Supporting Variants
SamplesHG00404
Known GenesBRD1, LOC90834
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16457783
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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