A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307478



Internal ID15154426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43563857..43563858hg38UCSC Ensembl
Innerchr13:43563775..43563940hg38UCSC Ensembl
Outerchr13:43563774..43563941hg38UCSC Ensembl
chr13:44137993..44137994hg19UCSC Ensembl
Innerchr13:44137911..44138076hg19UCSC Ensembl
Outerchr13:44137910..44138077hg19UCSC Ensembl
chr13:43035993..43035994hg18UCSC Ensembl
Innerchr13:43036076..43035911hg18UCSC Ensembl
Outerchr13:43035910..43036077hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38236
hg19236
hg18236
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760030, essv7742236, essv7758772
SamplesNA18519, NA18501, NA19129
Known GenesENOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307478
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer