A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16430381



Internal ID6432197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42127947..42137882hg38UCSC Ensembl
chr22:42523949..42533891hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389936
hg199943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647809
Supporting Variants
SamplesHG00879
Known GenesCYP2D6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16430381
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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