A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421431



Internal ID15268389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:90223543..90228041hg38UCSC Ensembl
Innerchr16:90224543..90227041hg38UCSC Ensembl
Outerchr16:90222543..90228345hg38UCSC Ensembl
chr16:90289951..90294449hg19UCSC Ensembl
Innerchr16:90290951..90293449hg19UCSC Ensembl
Outerchr16:90288951..90294753hg19UCSC Ensembl
chr16:88817452..88821950hg18UCSC Ensembl
Innerchr16:88818452..88820950hg18UCSC Ensembl
Outerchr16:88816452..88822950hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384499
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1669e59
Supporting Variantsessv8690510
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421431
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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