A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690406



Internal ID14752753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6372250..6373648hg38UCSC Ensembl
Innerchr16:6372648..6373250hg38UCSC Ensembl
Outerchr16:6371250..6374648hg38UCSC Ensembl
chr16:6422251..6423649hg19UCSC Ensembl
Innerchr16:6422649..6423251hg19UCSC Ensembl
Outerchr16:6421251..6424649hg19UCSC Ensembl
chr16:6362252..6363650hg18UCSC Ensembl
Innerchr16:6363252..6362650hg18UCSC Ensembl
Outerchr16:6361252..6364650hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424431
Supporting Variants
SamplesNA19240
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690406
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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