A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433094



Internal ID15280050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68940577..68940596hg38UCSC Ensembl
Innerchr16:68940573..68940600hg38UCSC Ensembl
Outerchr16:68940554..68940619hg38UCSC Ensembl
chr16:68974480..68974499hg19UCSC Ensembl
Innerchr16:68974476..68974503hg19UCSC Ensembl
Outerchr16:68974457..68974522hg19UCSC Ensembl
chr16:67531981..67532000hg18UCSC Ensembl
Innerchr16:67532004..67531977hg18UCSC Ensembl
Outerchr16:67531958..67532023hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9671857
SamplesNA19141
Known GenesTANGO6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433094
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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