A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308552



Internal ID14808815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7176225..7176226hg38UCSC Ensembl
Innerchr16:7176199..7176252hg38UCSC Ensembl
Outerchr16:7176198..7176253hg38UCSC Ensembl
chr16:7226226..7226227hg19UCSC Ensembl
Innerchr16:7226200..7226253hg19UCSC Ensembl
Outerchr16:7226199..7226254hg19UCSC Ensembl
chr16:7166227..7166228hg18UCSC Ensembl
Innerchr16:7166254..7166201hg18UCSC Ensembl
Outerchr16:7166200..7166255hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838880, essv7837587
SamplesNA19238, NA19240
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308552
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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