A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308401



Internal ID15155350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38856736..38856737hg38UCSC Ensembl
Innerchr13:38856710..38856763hg38UCSC Ensembl
Outerchr13:38856709..38856764hg38UCSC Ensembl
chr13:39430873..39430874hg19UCSC Ensembl
Innerchr13:39430847..39430900hg19UCSC Ensembl
Outerchr13:39430846..39430901hg19UCSC Ensembl
chr13:38328873..38328874hg18UCSC Ensembl
Innerchr13:38328900..38328847hg18UCSC Ensembl
Outerchr13:38328846..38328901hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838911
SamplesNA19238
Known GenesFREM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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