A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305974



Internal ID14806236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10992533..10992534hg38UCSC Ensembl
Innerchr16:10992511..10992556hg38UCSC Ensembl
Outerchr16:10992510..10992557hg38UCSC Ensembl
chr16:11086390..11086391hg19UCSC Ensembl
Innerchr16:11086368..11086413hg19UCSC Ensembl
Outerchr16:11086367..11086414hg19UCSC Ensembl
chr16:10993891..10993892hg18UCSC Ensembl
Innerchr16:10993914..10993869hg18UCSC Ensembl
Outerchr16:10993868..10993915hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7767928, essv7769932, essv7767541, essv7766141, essv7764404, essv7765080, essv7768340, essv7766316, essv7765636, essv7768910, essv7763411, essv7764483, essv7766871, essv7765435
SamplesNA11881, NA12249, NA07347, NA12815, NA12287, NA11840, NA12873, NA18970, NA07346, NA12872, NA12891, NA12812, NA12878, NA12874
Known GenesCLEC16A
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305974
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer