A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1388e214



Internal ID22757282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19767612..19813426hg38UCSC Ensembl
chr8:19625123..19670937hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3845815
hg1945815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616551, esv3616549
SamplesHG02727, NA19067
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1388e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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