A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3788e59



Internal ID22765008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45810928..45813226hg38UCSC Ensembl
chr7:45850527..45852825hg19UCSC Ensembl
chr7:45817052..45819350hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3431293, esv3383184, esv3403070
SamplesNA19238, NA19239, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3788e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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