A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302715



Internal ID14802977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028454..7028516hg38UCSC Ensembl
Innerchr17:7028485..7028485hg38UCSC Ensembl
Outerchr17:7028354..7028616hg38UCSC Ensembl
chr17:6931773..6931835hg19UCSC Ensembl
Innerchr17:6931804..6931804hg19UCSC Ensembl
Outerchr17:6931673..6931935hg19UCSC Ensembl
chr17:6872497..6872559hg18UCSC Ensembl
Innerchr17:6872528..6872528hg18UCSC Ensembl
Outerchr17:6872397..6872659hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735799, essv7734943, essv7733097, essv7733960, essv7734544, essv7737149, essv7731993, essv7734039, essv7737345
SamplesNA18508, NA18870, NA19138, NA12878, NA12892, NA12144, NA18858, NA18517, NA18501
Known GenesBCL6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302715
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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