A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302754



Internal ID15149702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109868072..109868244hg38UCSC Ensembl
Innerchr12:109868158..109868158hg38UCSC Ensembl
Outerchr12:109867972..109868344hg38UCSC Ensembl
chr12:110305877..110306049hg19UCSC Ensembl
Innerchr12:110305963..110305963hg19UCSC Ensembl
Outerchr12:110305777..110306149hg19UCSC Ensembl
chr12:108790260..108790432hg18UCSC Ensembl
Innerchr12:108790346..108790346hg18UCSC Ensembl
Outerchr12:108790160..108790532hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733514, essv7738839, essv7738709, essv7732662
SamplesNA12717, NA18510, NA11918, NA12003
Known GenesGLTP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302754
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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