A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732301



Internal ID13637518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183088959..183089709hg38UCSC Ensembl
Outerchr3:183088759..183089909hg38UCSC Ensembl
Innerchr3:182806747..182807497hg19UCSC Ensembl
Outerchr3:182806547..182807697hg19UCSC Ensembl
Innerchr3:184289441..184290191hg18UCSC Ensembl
Outerchr3:184289241..184290391hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381151
hg191151
hg181151
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302751
Supporting Variants
SamplesNA18545
Known GenesMCCC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732301
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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