A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309449



Internal ID15156399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31317886..31317887hg38UCSC Ensembl
Innerchr13:31317869..31317904hg38UCSC Ensembl
Outerchr13:31317868..31317905hg38UCSC Ensembl
chr13:31892023..31892024hg19UCSC Ensembl
Innerchr13:31892006..31892041hg19UCSC Ensembl
Outerchr13:31892005..31892042hg19UCSC Ensembl
chr13:30790023..30790024hg18UCSC Ensembl
Innerchr13:30790041..30790006hg18UCSC Ensembl
Outerchr13:30790005..30790042hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38139
hg19139
hg18139
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841028, essv7840329, essv7840596
SamplesNA12891, NA12878, NA12892
Known GenesB3GALTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309449
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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