A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv547e214



Internal ID20121970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84253360..84417275hg38UCSC Ensembl
chr16:84286966..84450881hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38163916
hg19163916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639419, esv3639417
SamplesHG03009
Known GenesATP2C2, WFDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv547e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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