A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400578



Internal ID14900855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17157885..17157885hg38UCSC Ensembl
Innerchr16:17157884..17157886hg38UCSC Ensembl
Outerchr16:17157845..17157905hg38UCSC Ensembl
chr16:17251742..17251742hg19UCSC Ensembl
Innerchr16:17251741..17251743hg19UCSC Ensembl
Outerchr16:17251702..17251762hg19UCSC Ensembl
chr16:17159243..17159243hg18UCSC Ensembl
Innerchr16:17159244..17159242hg18UCSC Ensembl
Outerchr16:17159203..17159263hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38133
hg19133
hg18133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8642257
Samples
Known GenesXYLT1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400578
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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