A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5676265



Internal ID8653668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132611514..132613963hg38UCSC Ensembl
chr3:132330358..132332807hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382450
hg192450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669271
Supporting Variants
SamplesNA19332
Known GenesACAD11, NPHP3-ACAD11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5676265
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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