A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411916



Internal ID14912189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7638967..7638993hg38UCSC Ensembl
Innerchr16:7638979..7638979hg38UCSC Ensembl
Outerchr16:7638953..7639005hg38UCSC Ensembl
chr16:7688969..7688995hg19UCSC Ensembl
Innerchr16:7688981..7688981hg19UCSC Ensembl
Outerchr16:7688955..7689007hg19UCSC Ensembl
chr16:7628970..7628996hg18UCSC Ensembl
Innerchr16:7628982..7628982hg18UCSC Ensembl
Outerchr16:7628956..7629008hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970093, essv8970091, essv8970090
SamplesNA18511, NA18858, NA18909
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411916
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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