A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303061



Internal ID14803323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113091456..113091622hg38UCSC Ensembl
Innerchr12:113091539..113091539hg38UCSC Ensembl
Outerchr12:113091356..113091722hg38UCSC Ensembl
chr12:113529261..113529427hg19UCSC Ensembl
Innerchr12:113529344..113529344hg19UCSC Ensembl
Outerchr12:113529161..113529527hg19UCSC Ensembl
chr12:112013644..112013810hg18UCSC Ensembl
Innerchr12:112013727..112013727hg18UCSC Ensembl
Outerchr12:112013544..112013910hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv913e59
Supporting Variantsessv7732790, essv7738792, essv7739182, essv7736932, essv7737555, essv7734376, essv7739268
SamplesNA12717, NA10851, NA11931, NA12891, NA12761, NA12249, NA12749
Known GenesDTX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303061
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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