A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371029



Internal ID14871288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7176226..7176236hg38UCSC Ensembl
Innerchr16:7176218..7176242hg38UCSC Ensembl
Outerchr16:7176210..7176252hg38UCSC Ensembl
chr16:7226227..7226237hg19UCSC Ensembl
Innerchr16:7226219..7226243hg19UCSC Ensembl
Outerchr16:7226211..7226253hg19UCSC Ensembl
chr16:7166228..7166238hg18UCSC Ensembl
Innerchr16:7166244..7166220hg18UCSC Ensembl
Outerchr16:7166212..7166254hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673339, essv8673340
SamplesNA19239, NA19240
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371029
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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