A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303531



Internal ID15150479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56535884..56535885hg38UCSC Ensembl
Innerchr16:56535862..56535907hg38UCSC Ensembl
Outerchr16:56535861..56535908hg38UCSC Ensembl
chr16:56569796..56569797hg19UCSC Ensembl
Innerchr16:56569774..56569819hg19UCSC Ensembl
Outerchr16:56569773..56569820hg19UCSC Ensembl
chr16:55127297..55127298hg18UCSC Ensembl
Innerchr16:55127320..55127275hg18UCSC Ensembl
Outerchr16:55127274..55127321hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768294, essv7764826
SamplesNA12872, NA12234
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303531
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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