A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16461947



Internal ID6463763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50013481..50024531hg38UCSC Ensembl
chr22:50451910..50462960hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811051
hg1911051
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648079
Supporting Variants
SamplesHG02082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16461947
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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