A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304919



Internal ID15151867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28973617..28973618hg38UCSC Ensembl
Innerchr7:28973586..28973649hg38UCSC Ensembl
Outerchr7:28973585..28973650hg38UCSC Ensembl
chr7:29013233..29013234hg19UCSC Ensembl
Innerchr7:29013202..29013265hg19UCSC Ensembl
Outerchr7:29013201..29013266hg19UCSC Ensembl
chr7:28979758..28979759hg18UCSC Ensembl
Innerchr7:28979790..28979727hg18UCSC Ensembl
Outerchr7:28979726..28979791hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741145, essv7741381, essv7750401, essv7743095, essv7746452, essv7747732, essv7759878, essv7756158, essv7746734, essv7744116
SamplesNA18870, NA18510, NA18916, NA19138, NA19172, NA18871, NA19257, NA19225, NA18858, NA18517
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304919
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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