A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv521e214



Internal ID20121944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53057939..53061216hg38UCSC Ensembl
chr16:53091851..53095128hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383278
hg193278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638644, esv3638642
SamplesHG00182, NA21102, NA20904, HG04171
Known GenesCHD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv521e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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