A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16457738



Internal ID6526561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49522399..49613284hg38UCSC Ensembl
chr22:49916048..50006932hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3890886
hg1990885
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648061
Supporting Variants
SamplesNA20544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16457738
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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