A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302577



Internal ID14802838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113091446..113091606hg38UCSC Ensembl
Innerchr12:113091526..113091526hg38UCSC Ensembl
Outerchr12:113091346..113091706hg38UCSC Ensembl
chr12:113529251..113529411hg19UCSC Ensembl
Innerchr12:113529331..113529331hg19UCSC Ensembl
Outerchr12:113529151..113529511hg19UCSC Ensembl
chr12:112013634..112013794hg18UCSC Ensembl
Innerchr12:112013714..112013714hg18UCSC Ensembl
Outerchr12:112013534..112013894hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv913e59
Supporting Variantsessv7731174
SamplesNA12891
Known GenesDTX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302577
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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