A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11154473



Internal ID3761211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132611574..132614061hg38UCSC Ensembl
Innerchr3:132611638..132614001hg38UCSC Ensembl
Outerchr3:132611389..132614246hg38UCSC Ensembl
chr3:132330418..132332905hg19UCSC Ensembl
Innerchr3:132330482..132332845hg19UCSC Ensembl
Outerchr3:132330233..132333090hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597828
Supporting Variants
SamplesHG03391
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11154473
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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