A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843416



Internal ID13622448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144356291..144356291hg38UCSC Ensembl
chr8:145579951..145579951hg19UCSC Ensembl
chr8:145550759..145550759hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310508
Supporting Variants
SamplesNA12878
Known GenesFBXL6
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843416
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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