A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340353



Internal ID14840623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17446847..17446887hg38UCSC Ensembl
Innerchr16:17446852..17446879hg38UCSC Ensembl
Outerchr16:17446812..17446922hg38UCSC Ensembl
chr16:17540704..17540744hg19UCSC Ensembl
Innerchr16:17540709..17540736hg19UCSC Ensembl
Outerchr16:17540669..17540779hg19UCSC Ensembl
chr16:17448205..17448245hg18UCSC Ensembl
Innerchr16:17448237..17448210hg18UCSC Ensembl
Outerchr16:17448170..17448280hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970109, essv8970108, essv8970110
SamplesNA18870, NA18501, NA18858
Known GenesXYLT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340353
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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