A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696172



Internal ID15023627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132495523..132497321hg38UCSC Ensembl
Innerchr8:132496321..132496523hg38UCSC Ensembl
Outerchr8:132494523..132498321hg38UCSC Ensembl
chr8:133507770..133509568hg19UCSC Ensembl
Innerchr8:133508568..133508770hg19UCSC Ensembl
Outerchr8:133506770..133510568hg19UCSC Ensembl
chr8:133576952..133578750hg18UCSC Ensembl
Innerchr8:133577952..133577750hg18UCSC Ensembl
Outerchr8:133575952..133579750hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368925
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696172
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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