A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11154467



Internal ID1156283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132554241..132561393hg38UCSC Ensembl
Innerchr3:132554241..132561393hg38UCSC Ensembl
Outerchr3:132553995..132561676hg38UCSC Ensembl
chr3:132273085..132280237hg19UCSC Ensembl
Innerchr3:132273085..132280237hg19UCSC Ensembl
Outerchr3:132272839..132280520hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387153
hg197153
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597827
Supporting Variants
SamplesNA20796
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11154467
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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