A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16365233



Internal ID6367049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19335609..19368236hg38UCSC Ensembl
chr22:19323132..19355759hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3832628
hg1932628
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647270
Supporting Variants
SamplesHG01808
Known GenesHIRA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16365233
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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