A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv503e214



Internal ID20121926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31332171..31413104hg38UCSC Ensembl
chr16:31343492..31424425hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3880934
hg1980934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638397, esv3638396
SamplesNA20299, HG03291, NA20289
Known GenesITGAD, ITGAM, ITGAX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv503e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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