A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809527



Internal ID13653435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47303501..47317337hg38UCSC Ensembl
Innerchr8:47303501..47316259hg38UCSC Ensembl
Outerchr8:47303501..47317337hg38UCSC Ensembl
chr8:48214892..48231951hg19UCSC Ensembl
Innerchr8:48216882..48230371hg19UCSC Ensembl
Outerchr8:48214782..48232071hg19UCSC Ensembl
chr8:48377445..48394504hg18UCSC Ensembl
Innerchr8:48379435..48392924hg18UCSC Ensembl
Outerchr8:48377335..48394624hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3813837
hg1917060
hg1817060
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3444020
Supporting Variants
SamplesNA12878
Known GenesSPIDR
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809527
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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