A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808883



Internal ID13299682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114103428..114109100hg38UCSC Ensembl
Innerchr1:114105418..114107520hg38UCSC Ensembl
Outerchr1:114103318..114109220hg38UCSC Ensembl
chr1:114646050..114651722hg19UCSC Ensembl
Innerchr1:114648040..114650142hg19UCSC Ensembl
Outerchr1:114645940..114651842hg19UCSC Ensembl
chr1:114447573..114453245hg18UCSC Ensembl
Innerchr1:114449563..114451665hg18UCSC Ensembl
Outerchr1:114447463..114453365hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg385673
hg195673
hg185673
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3326355
Supporting Variants
SamplesNA12878
Known GenesSYT6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808883
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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