A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2978e59



Internal ID22764198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49519078..49550076hg38UCSC Ensembl
chr4:49521095..49552093hg19UCSC Ensembl
chr4:49215852..49246850hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3830999
hg1930999
hg1830999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3418708, esv3442973
SamplesNA12891, NA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2978e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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