A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1483e59



Internal ID22762703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1339350..1340848hg38UCSC Ensembl
chr16:1389351..1390849hg19UCSC Ensembl
chr16:1329352..1330850hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3392007, esv3417294
SamplesNA19239, NA19240
Known GenesBAIAP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1483e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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