A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597545



Internal ID6984685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:118999514..119144923hg38UCSC Ensembl
chr3:118718361..118863770hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38145410
hg19145410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11116196, essv11116203, essv11116201, essv11116200, essv11116198, essv11116204, essv11116202, essv11116197, essv11116205, essv11116199
SamplesNA20762, HG04211, HG03679, HG04020, HG03714, HG03771, HG01607, HG03689, HG04003, NA20887
Known GenesIGSF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597545
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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