A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv548e214



Internal ID20121971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84253360..84417275hg38UCSC Ensembl
chr16:84286966..84450881hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38163916
hg19163916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639418, esv3639420
SamplesNA19031, HG02105, HG02008, NA19456
Known GenesATP2C2, WFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv548e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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