A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597133



Internal ID6984447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99075949..99224489hg38UCSC Ensembl
chr3:98794793..98943333hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38148541
hg19148541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv915e214
Supporting Variantsessv11079220, essv11079221
SamplesHG01389, HG01432
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597133
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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