A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809157



Internal ID13649134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128627799..128659336hg38UCSC Ensembl
Innerchr3:128629789..128657756hg38UCSC Ensembl
Outerchr3:128627689..128659456hg38UCSC Ensembl
chr3:128346642..128378179hg19UCSC Ensembl
Innerchr3:128348632..128376599hg19UCSC Ensembl
Outerchr3:128346532..128378299hg19UCSC Ensembl
chr3:129829332..129860869hg18UCSC Ensembl
Innerchr3:129831322..129859289hg18UCSC Ensembl
Outerchr3:129829222..129860989hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3831538
hg1931538
hg1831538
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3365174
Supporting Variants
SamplesNA12878
Known GenesRPN1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809157
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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