A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv742e59



Internal ID20127491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3268225..3269623hg38UCSC Ensembl
chr12:3377391..3378789hg19UCSC Ensembl
chr12:3247652..3249050hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3427400, esv3378997
SamplesNA19239, NA19240
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv742e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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