A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308356



Internal ID15155304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705738..75705739hg38UCSC Ensembl
Innerchr13:75705671..75705806hg38UCSC Ensembl
Outerchr13:75705670..75705807hg38UCSC Ensembl
chr13:76279874..76279875hg19UCSC Ensembl
Innerchr13:76279807..76279942hg19UCSC Ensembl
Outerchr13:76279806..76279943hg19UCSC Ensembl
chr13:75177875..75177876hg18UCSC Ensembl
Innerchr13:75177943..75177808hg18UCSC Ensembl
Outerchr13:75177807..75177944hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386019
hg196019
hg186019
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838897
SamplesNA19238
Known GenesLMO7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308356
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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