A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597827



Internal ID6638094
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11154459, essv11154467, essv11154463, essv11154465, essv11154461, essv11154460, essv11154464, essv11154462, essv11154466
SamplesNA20796, HG01767, HG01248, HG00324, HG01679, NA12043, NA06986, HG01431, HG01786
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597827
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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