A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741102



Internal ID15086904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70125648..70125648hg38UCSC Ensembl
Innerchr3:70125647..70125649hg38UCSC Ensembl
Outerchr3:70125598..70125698hg38UCSC Ensembl
chr3:70174799..70174799hg19UCSC Ensembl
Innerchr3:70174798..70174800hg19UCSC Ensembl
Outerchr3:70174749..70174849hg19UCSC Ensembl
chr3:70257489..70257489hg18UCSC Ensembl
Innerchr3:70257490..70257488hg18UCSC Ensembl
Outerchr3:70257439..70257539hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3379357
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741102
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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