A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329101



Internal ID15176088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143181860..143183058hg38UCSC Ensembl
Innerchr8:143182058..143182860hg38UCSC Ensembl
Outerchr8:143180860..143184058hg38UCSC Ensembl
chr8:144263277..144264475hg19UCSC Ensembl
Innerchr8:144263475..144264277hg19UCSC Ensembl
Outerchr8:144262277..144265475hg19UCSC Ensembl
chr8:144334652..144335850hg18UCSC Ensembl
Innerchr8:144335652..144334850hg18UCSC Ensembl
Outerchr8:144333652..144336850hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696243
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329101
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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