A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696171



Internal ID15097582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132495523..132496621hg38UCSC Ensembl
Innerchr8:132495621..132496523hg38UCSC Ensembl
Outerchr8:132494523..132497621hg38UCSC Ensembl
chr8:133507770..133508868hg19UCSC Ensembl
Innerchr8:133507868..133508770hg19UCSC Ensembl
Outerchr8:133506770..133509868hg19UCSC Ensembl
chr8:133576952..133578050hg18UCSC Ensembl
Innerchr8:133577952..133577050hg18UCSC Ensembl
Outerchr8:133575952..133579050hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342634
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696171
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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