A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv801e59



Internal ID22762021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:34674750..34703748hg38UCSC Ensembl
chr12:34827685..34856683hg19UCSC Ensembl
chr12:34718952..34747950hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3828999
hg1928999
hg1828999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3406477, esv3361961
SamplesNA12891, NA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv801e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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