A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv549e214



Internal ID20121972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84434443..84555604hg38UCSC Ensembl
chr16:84468049..84589210hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38121162
hg19121162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639426, esv3639425
SamplesHG02008, HG00362
Known GenesATP2C2, TLDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv549e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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