A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441537



Internal ID15288490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142519189..142521087hg38UCSC Ensembl
Innerchr8:142520087..142520189hg38UCSC Ensembl
Outerchr8:142518189..142522087hg38UCSC Ensembl
chr8:143600550..143602448hg19UCSC Ensembl
Innerchr8:143601448..143601550hg19UCSC Ensembl
Outerchr8:143599550..143603448hg19UCSC Ensembl
chr8:143597552..143599450hg18UCSC Ensembl
Innerchr8:143598552..143598450hg18UCSC Ensembl
Outerchr8:143596552..143600450hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4265e59
Supporting Variantsessv8696226
SamplesNA19240
Known GenesBAI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441537
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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