A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306104



Internal ID14806366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17446838..17446839hg38UCSC Ensembl
Innerchr16:17446788..17446889hg38UCSC Ensembl
Outerchr16:17446787..17446890hg38UCSC Ensembl
chr16:17540695..17540696hg19UCSC Ensembl
Innerchr16:17540645..17540746hg19UCSC Ensembl
Outerchr16:17540644..17540747hg19UCSC Ensembl
chr16:17448196..17448197hg18UCSC Ensembl
Innerchr16:17448247..17448146hg18UCSC Ensembl
Outerchr16:17448145..17448248hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760067, essv7756263, essv7746502
SamplesNA18870, NA18501, NA18858
Known GenesXYLT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306104
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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