A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302465



Internal ID14802726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028425..7028485hg38UCSC Ensembl
Innerchr17:7028455..7028455hg38UCSC Ensembl
Outerchr17:7028325..7028585hg38UCSC Ensembl
chr17:6931744..6931804hg19UCSC Ensembl
Innerchr17:6931774..6931774hg19UCSC Ensembl
Outerchr17:6931644..6931904hg19UCSC Ensembl
chr17:6872468..6872528hg18UCSC Ensembl
Innerchr17:6872498..6872498hg18UCSC Ensembl
Outerchr17:6872368..6872628hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731024, essv7731441
SamplesNA12892, NA12878
Known GenesBCL6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302465
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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