A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809279



Internal ID13303828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68783532..68935743hg38UCSC Ensembl
Innerchr4:68785522..68934163hg38UCSC Ensembl
Outerchr4:68783422..68935863hg38UCSC Ensembl
chr4:69649250..69801461hg19UCSC Ensembl
Innerchr4:69651240..69799881hg19UCSC Ensembl
Outerchr4:69649140..69801581hg19UCSC Ensembl
chr4:69683839..69836050hg18UCSC Ensembl
Innerchr4:69685829..69834470hg18UCSC Ensembl
Outerchr4:69683729..69836170hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38152212
hg19152212
hg18152212
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3368609
Supporting Variants
SamplesNA12878
Known GenesUGT2A3, UGT2B10
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809279
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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