A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353505



Internal ID15200486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:71985248..71985261hg38UCSC Ensembl
Innerchr17:71985254..71985255hg38UCSC Ensembl
Outerchr17:71985241..71985268hg38UCSC Ensembl
chr17:69981389..69981402hg19UCSC Ensembl
Innerchr17:69981395..69981396hg19UCSC Ensembl
Outerchr17:69981382..69981409hg19UCSC Ensembl
chr17:67492984..67492997hg18UCSC Ensembl
Innerchr17:67492991..67492990hg18UCSC Ensembl
Outerchr17:67492977..67493004hg18UCSC Ensembl
Cytoband17q24.3
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 Variantsessv7865995
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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