A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731441



Internal ID13277070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028426..7028485hg38UCSC Ensembl
Innerchr17:7028455..7028456hg38UCSC Ensembl
Outerchr17:7028326..7028585hg38UCSC Ensembl
chr17:6931745..6931804hg19UCSC Ensembl
Innerchr17:6931774..6931775hg19UCSC Ensembl
Outerchr17:6931645..6931904hg19UCSC Ensembl
chr17:6872469..6872528hg18UCSC Ensembl
Innerchr17:6872499..6872498hg18UCSC Ensembl
Outerchr17:6872369..6872628hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302465
Supporting Variants
SamplesNA12878
Known GenesBCL6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731441
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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