A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16452928



Internal ID6454752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48994038..49609170hg38UCSC Ensembl
Innerchr22:48994188..49609020hg38UCSC Ensembl
Outerchr22:48993888..49609320hg38UCSC Ensembl
chr22:49389850..50002818hg19UCSC Ensembl
Innerchr22:49390000..50002668hg19UCSC Ensembl
Outerchr22:49389700..50002968hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38615133
hg19612969
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648030
Supporting Variants
SamplesNA20544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16452928
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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