A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690517



Internal ID15058555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10311210..10312608hg38UCSC Ensembl
Innerchr17:10311608..10312210hg38UCSC Ensembl
Outerchr17:10310210..10313608hg38UCSC Ensembl
chr17:10214527..10215925hg19UCSC Ensembl
Innerchr17:10214925..10215527hg19UCSC Ensembl
Outerchr17:10213527..10216925hg19UCSC Ensembl
chr17:10155252..10156650hg18UCSC Ensembl
Innerchr17:10156252..10155650hg18UCSC Ensembl
Outerchr17:10154252..10157650hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417926
Supporting Variants
SamplesNA19239
Known GenesMYH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690517
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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