A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303375



Internal ID15150323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109175783..109175784hg38UCSC Ensembl
Innerchr13:109175698..109175869hg38UCSC Ensembl
Outerchr13:109175697..109175870hg38UCSC Ensembl
chr13:109828131..109828132hg19UCSC Ensembl
Innerchr13:109828046..109828217hg19UCSC Ensembl
Outerchr13:109828045..109828218hg19UCSC Ensembl
chr13:108626132..108626133hg18UCSC Ensembl
Innerchr13:108626218..108626047hg18UCSC Ensembl
Outerchr13:108626046..108626219hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741048, essv7749811, essv7756056
SamplesNA18870, NA18517, NA19093
Known GenesMYO16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303375
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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