A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1390e214



Internal ID18981565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27303974..27359840hg38UCSC Ensembl
chr8:27161491..27217357hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3855867
hg1955867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616718, esv3616720
SamplesNA19782, HG01596
Known GenesPTK2B, TRIM35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1390e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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