A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16351478



Internal ID1803768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16554021..16595350hg38UCSC Ensembl
chr22:17034911..17076240hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3841330
hg1941330
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647192
Supporting Variants
SamplesHG01679
Known GenesCCT8L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16351478
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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