A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416608



Internal ID14880345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028489..7028489hg38UCSC Ensembl
Innerchr17:7028488..7028490hg38UCSC Ensembl
Outerchr17:7028429..7028539hg38UCSC Ensembl
chr17:6931808..6931808hg19UCSC Ensembl
Innerchr17:6931807..6931809hg19UCSC Ensembl
Outerchr17:6931748..6931858hg19UCSC Ensembl
chr17:6872532..6872532hg18UCSC Ensembl
Innerchr17:6872533..6872531hg18UCSC Ensembl
Outerchr17:6872472..6872582hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8819567
SamplesNA12878
Known GenesBCL6B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416608
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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