A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418476



Internal ID14918748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14256127..14256128hg38UCSC Ensembl
Innerchr16:14256126..14256129hg38UCSC Ensembl
Outerchr16:14256125..14256130hg38UCSC Ensembl
chr16:14349984..14349985hg19UCSC Ensembl
Innerchr16:14349983..14349986hg19UCSC Ensembl
Outerchr16:14349982..14349987hg19UCSC Ensembl
chr16:14257485..14257486hg18UCSC Ensembl
Innerchr16:14257487..14257484hg18UCSC Ensembl
Outerchr16:14257483..14257488hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865861
SamplesNA12005
Known GenesMKL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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