A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e214



Internal ID20121443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54558682..54587087hg38UCSC Ensembl
chr1:55024355..55052760hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3828406
hg1928406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3586092, esv3586094
SamplesHG00457, NA21133, NA21115
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv20e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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