A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv546e214



Internal ID20121969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84011032..84095132hg38UCSC Ensembl
chr16:84044637..84128737hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3884101
hg1984101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639408, esv3639407
SamplesHG03965, HG03717, NA20540, HG02685, NA20502
Known GenesMBTPS1, SLC38A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv546e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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