A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808737



Internal ID13298346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:458004..458327hg38UCSC Ensembl
Innerchr16:458003..458328hg38UCSC Ensembl
Outerchr16:457894..458447hg38UCSC Ensembl
chr16:508004..508327hg19UCSC Ensembl
Innerchr16:508003..508328hg19UCSC Ensembl
Outerchr16:507894..508447hg19UCSC Ensembl
chr16:448005..448328hg18UCSC Ensembl
Innerchr16:448329..448004hg18UCSC Ensembl
Outerchr16:447895..448448hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346567
Supporting Variants
SamplesNA12878
Known GenesRAB11FIP3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808737
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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