A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597348



Internal ID6984576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:109393274..109396239hg38UCSC Ensembl
Innerchr3:109393424..109396089hg38UCSC Ensembl
Outerchr3:109393124..109396389hg38UCSC Ensembl
chr3:109112121..109115086hg19UCSC Ensembl
Innerchr3:109112271..109114936hg19UCSC Ensembl
Outerchr3:109111971..109115236hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg382966
hg192966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11098117, essv11098098, essv11098109, essv11098124, essv11098097, essv11098119, essv11098096, essv11098101, essv11098112, essv11098107, essv11098122, essv11098121, essv11098116, essv11098108, essv11098125, essv11098111, essv11098123, essv11098103, essv11098118, essv11098120, essv11098105, essv11098100, essv11098110, essv11098099, essv11098102, essv11098114, essv11098104, essv11098115, essv11098106, essv11098113
SamplesHG04096, NA21111, HG04158, HG03836, HG03999, HG03782, NA21135, NA20850, HG04206, NA20905, HG03673, HG02655, NA19917, HG03585, NA20892, HG03928, HG03771, HG03823, HG03742, HG04176, HG03991, HG04188, HG03012, HG03600, HG03998, HG03684, HG04171, HG03922, HG02778, HG03686
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597348
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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