A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8970083



Internal ID13055206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7176222..7176233hg38UCSC Ensembl
Innerchr16:7176212..7176240hg38UCSC Ensembl
Outerchr16:7176201..7176251hg38UCSC Ensembl
chr16:7226223..7226234hg19UCSC Ensembl
Innerchr16:7226213..7226241hg19UCSC Ensembl
Outerchr16:7226202..7226252hg19UCSC Ensembl
chr16:7166224..7166235hg18UCSC Ensembl
Innerchr16:7166242..7166214hg18UCSC Ensembl
Outerchr16:7166203..7166253hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400210
Supporting Variants
SamplesNA12155
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8970083
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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