A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741321



Internal ID14742980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100703081..100703217hg38UCSC Ensembl
Innerchr8:100703131..100703167hg38UCSC Ensembl
Outerchr8:100703031..100703267hg38UCSC Ensembl
chr8:101715309..101715445hg19UCSC Ensembl
Innerchr8:101715359..101715395hg19UCSC Ensembl
Outerchr8:101715259..101715495hg19UCSC Ensembl
chr8:101784485..101784621hg18UCSC Ensembl
Innerchr8:101784535..101784571hg18UCSC Ensembl
Outerchr8:101784435..101784671hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38137
hg19137
hg18137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444716
Supporting Variants
SamplesNA19240
Known GenesPABPC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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