A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7747743



Internal ID15006594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181813401..181813402hg38UCSC Ensembl
Innerchr3:181813329..181813474hg38UCSC Ensembl
Outerchr3:181813328..181813475hg38UCSC Ensembl
chr3:181531189..181531190hg19UCSC Ensembl
Innerchr3:181531117..181531262hg19UCSC Ensembl
Outerchr3:181531116..181531263hg19UCSC Ensembl
chr3:183013883..183013884hg18UCSC Ensembl
Innerchr3:183013956..183013811hg18UCSC Ensembl
Outerchr3:183013810..183013957hg18UCSC Ensembl
Cytoband3q26.33
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 Variantsesv3303669
Supporting Variants
SamplesNA19225
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7747743
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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