A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424300



Internal ID14924571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7176213..7176232hg38UCSC Ensembl
Innerchr16:7176209..7176236hg38UCSC Ensembl
Outerchr16:7176190..7176255hg38UCSC Ensembl
chr16:7226214..7226233hg19UCSC Ensembl
Innerchr16:7226210..7226237hg19UCSC Ensembl
Outerchr16:7226191..7226256hg19UCSC Ensembl
chr16:7166215..7166234hg18UCSC Ensembl
Innerchr16:7166238..7166211hg18UCSC Ensembl
Outerchr16:7166192..7166257hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9670646, essv9670613, essv9670635, essv9670624, essv9670657
SamplesNA18969, NA19143, NA12873, NA12872, NA12874
Known GenesRBFOX1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424300
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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