A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv526e214



Internal ID20121949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66940449..67031371hg38UCSC Ensembl
chr16:66974352..67065274hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3890923
hg1990923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638875, esv3638874
SamplesHG03976, HG03696, HG03848
Known GenesCBFB, CES2, CES3, CES4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv526e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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