A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675118



Internal ID13719565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189398048..189398068hg38UCSC Ensembl
Innerchr3:189398052..189398062hg38UCSC Ensembl
Outerchr3:189398032..189398084hg38UCSC Ensembl
chr3:189115837..189115857hg19UCSC Ensembl
Innerchr3:189115841..189115851hg19UCSC Ensembl
Outerchr3:189115821..189115873hg19UCSC Ensembl
chr3:190598531..190598551hg18UCSC Ensembl
Innerchr3:190598545..190598535hg18UCSC Ensembl
Outerchr3:190598515..190598567hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38213
hg19213
hg18213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447695
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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