A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838450



Internal ID13351773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100393675..100393676hg38UCSC Ensembl
Innerchr3:100393647..100393704hg38UCSC Ensembl
Outerchr3:100393646..100393705hg38UCSC Ensembl
chr3:100112519..100112520hg19UCSC Ensembl
Innerchr3:100112491..100112548hg19UCSC Ensembl
Outerchr3:100112490..100112549hg19UCSC Ensembl
chr3:101595209..101595210hg18UCSC Ensembl
Innerchr3:101595238..101595181hg18UCSC Ensembl
Outerchr3:101595180..101595239hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309821
Supporting Variants
SamplesNA12891
Known GenesTOMM70A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838450
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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