A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309122



Internal ID15156071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85592307..85592308hg38UCSC Ensembl
Innerchr13:85592281..85592334hg38UCSC Ensembl
Outerchr13:85592280..85592335hg38UCSC Ensembl
chr13:86166442..86166443hg19UCSC Ensembl
Innerchr13:86166416..86166469hg19UCSC Ensembl
Outerchr13:86166415..86166470hg19UCSC Ensembl
chr13:85064443..85064444hg18UCSC Ensembl
Innerchr13:85064470..85064417hg18UCSC Ensembl
Outerchr13:85064416..85064471hg18UCSC Ensembl
Cytoband13q31.1
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 Variantsessv7837832, essv7838058
SamplesNA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309122
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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