A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672760



Internal ID15031376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705757..75705801hg38UCSC Ensembl
Innerchr13:75705753..75705803hg38UCSC Ensembl
Outerchr13:75705709..75705847hg38UCSC Ensembl
chr13:76279893..76279937hg19UCSC Ensembl
Innerchr13:76279889..76279939hg19UCSC Ensembl
Outerchr13:76279845..76279983hg19UCSC Ensembl
chr13:75177894..75177938hg18UCSC Ensembl
Innerchr13:75177940..75177890hg18UCSC Ensembl
Outerchr13:75177846..75177984hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386019
hg196019
hg186019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3335407
Supporting Variants
SamplesNA19238
Known GenesLMO7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672760
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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