A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009583



Internal ID6721687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73971295..73984479hg38UCSC Ensembl
Outerchr8:74883530..74896714hg19UCSC Ensembl
Outerchr8:75046084..75059268hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3813185
hg1913185
hg1813185
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565043
SamplesHuRef
Known GenesTCEB1, TMEM70
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009583
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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