A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16362056



Internal ID3244131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18924644..19011486hg38UCSC Ensembl
chr22:18912157..18998999hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3886843
hg1986843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647249
Supporting Variants
SamplesHG02860
Known GenesDGCR5, PRODH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16362056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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