A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787841



Internal ID13427366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70312977..70312978hg38UCSC Ensembl
Innerchr17:70312960..70312995hg38UCSC Ensembl
Outerchr17:70312959..70312996hg38UCSC Ensembl
chr17:68309118..68309119hg19UCSC Ensembl
Innerchr17:68309101..68309136hg19UCSC Ensembl
Outerchr17:68309100..68309137hg19UCSC Ensembl
chr17:65820713..65820714hg18UCSC Ensembl
Innerchr17:65820731..65820696hg18UCSC Ensembl
Outerchr17:65820695..65820732hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306621
Supporting Variants
SamplesNA12249
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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