A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309942



Internal ID14810207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80793845..80793846hg38UCSC Ensembl
Innerchr7:80793793..80793898hg38UCSC Ensembl
Outerchr7:80793792..80793899hg38UCSC Ensembl
chr7:80423161..80423162hg19UCSC Ensembl
Innerchr7:80423109..80423214hg19UCSC Ensembl
Outerchr7:80423108..80423215hg19UCSC Ensembl
chr7:80261097..80261098hg18UCSC Ensembl
Innerchr7:80261150..80261045hg18UCSC Ensembl
Outerchr7:80261044..80261151hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838390
SamplesNA12891
Known GenesSEMA3C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309942
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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