A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740839



Internal ID13639350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50097298..50097345hg38UCSC Ensembl
Innerchr16:50097297..50097346hg38UCSC Ensembl
Outerchr16:50097248..50097395hg38UCSC Ensembl
chr16:50131209..50131256hg19UCSC Ensembl
Innerchr16:50131208..50131257hg19UCSC Ensembl
Outerchr16:50131159..50131306hg19UCSC Ensembl
chr16:48688710..48688757hg18UCSC Ensembl
Innerchr16:48688758..48688709hg18UCSC Ensembl
Outerchr16:48688660..48688807hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38258
hg19258
hg18258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3445882
Supporting Variants
SamplesNA12878
Known GenesHEATR3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740839
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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