A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv941e59



Internal ID22762161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130763854..130767052hg38UCSC Ensembl
chr12:131248399..131251597hg19UCSC Ensembl
chr12:129814352..129817550hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3401249, esv3400900, esv3416682
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv941e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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