A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306290



Internal ID15153238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79200126..79200127hg38UCSC Ensembl
Innerchr13:79200104..79200149hg38UCSC Ensembl
Outerchr13:79200103..79200150hg38UCSC Ensembl
chr13:79774261..79774262hg19UCSC Ensembl
Innerchr13:79774239..79774284hg19UCSC Ensembl
Outerchr13:79774238..79774285hg19UCSC Ensembl
chr13:78672262..78672263hg18UCSC Ensembl
Innerchr13:78672285..78672240hg18UCSC Ensembl
Outerchr13:78672239..78672286hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763952, essv7767442
SamplesNA18970, NA12043
Known GenesMIR548A2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306290
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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