A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379321



Internal ID15226293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59718122..59718141hg38UCSC Ensembl
Innerchr13:59718118..59718145hg38UCSC Ensembl
Outerchr13:59718099..59718164hg38UCSC Ensembl
chr13:60292256..60292275hg19UCSC Ensembl
Innerchr13:60292252..60292279hg19UCSC Ensembl
Outerchr13:60292233..60292298hg19UCSC Ensembl
chr13:59190257..59190276hg18UCSC Ensembl
Innerchr13:59190280..59190253hg18UCSC Ensembl
Outerchr13:59190234..59190299hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9661358
SamplesNA19143
Known GenesDIAPH3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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