A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669271



Internal ID9935376
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 StatusM
Merged Variants
Supporting Variantsessv5818038, essv6383481, essv5676265, essv5666500, essv5875948, essv6486019, essv6523483, essv5524132
SamplesNA19332, NA19704, NA19130, NA19236, NA19375, NA19467, NA18873, NA19431
Known GenesACAD11, NPHP3-ACAD11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669271
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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