A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865995



Internal ID13318173
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 StatusS
Merged Variantsesv3353505
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865995
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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