A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387195



Internal ID15234164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189398055..189398074hg38UCSC Ensembl
Innerchr3:189398051..189398078hg38UCSC Ensembl
Outerchr3:189398032..189398097hg38UCSC Ensembl
chr3:189115844..189115863hg19UCSC Ensembl
Innerchr3:189115840..189115867hg19UCSC Ensembl
Outerchr3:189115821..189115886hg19UCSC Ensembl
chr3:190598538..190598557hg18UCSC Ensembl
Innerchr3:190598561..190598534hg18UCSC Ensembl
Outerchr3:190598515..190598580hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9613824
SamplesNA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387195
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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