A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv922e59



Internal ID22762142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117432864..117435662hg38UCSC Ensembl
chr12:117870669..117873467hg19UCSC Ensembl
chr12:116355052..116357850hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3390160, esv3450706, esv3389214
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv922e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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