A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7733960



Internal ID14554385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7028485..7028486hg38UCSC Ensembl
Outerchr17:7028355..7028616hg38UCSC Ensembl
Innerchr17:6931804..6931805hg19UCSC Ensembl
Outerchr17:6931674..6931935hg19UCSC Ensembl
Innerchr17:6872529..6872528hg18UCSC Ensembl
Outerchr17:6872398..6872659hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302715
Supporting Variants
SamplesNA19138
Known GenesBCL6B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7733960
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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