A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7821349



Internal ID13593386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189398053..189398054hg38UCSC Ensembl
Innerchr3:189398034..189398073hg38UCSC Ensembl
Outerchr3:189398033..189398074hg38UCSC Ensembl
chr3:189115842..189115843hg19UCSC Ensembl
Innerchr3:189115823..189115862hg19UCSC Ensembl
Outerchr3:189115822..189115863hg19UCSC Ensembl
chr3:190598536..190598537hg18UCSC Ensembl
Innerchr3:190598556..190598517hg18UCSC Ensembl
Outerchr3:190598516..190598557hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306049
Supporting Variants
SamplesNA12812
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7821349
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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