A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394694



Internal ID15241659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189398054..189398082hg38UCSC Ensembl
Innerchr3:189398066..189398068hg38UCSC Ensembl
Outerchr3:189398040..189398094hg38UCSC Ensembl
chr3:189115843..189115871hg19UCSC Ensembl
Innerchr3:189115855..189115857hg19UCSC Ensembl
Outerchr3:189115829..189115883hg19UCSC Ensembl
chr3:190598537..190598565hg18UCSC Ensembl
Innerchr3:190598549..190598551hg18UCSC Ensembl
Outerchr3:190598523..190598577hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8917023, essv8917026, essv8917021, essv8917024, essv8917022
SamplesNA11919, NA12249, NA12043, NA12716, NA07051
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394694
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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