A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302751



Internal ID14803013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183088858..183089809hg38UCSC Ensembl
Innerchr3:183088958..183089709hg38UCSC Ensembl
Outerchr3:183088758..183089909hg38UCSC Ensembl
chr3:182806646..182807597hg19UCSC Ensembl
Innerchr3:182806746..182807497hg19UCSC Ensembl
Outerchr3:182806546..182807697hg19UCSC Ensembl
chr3:184289340..184290291hg18UCSC Ensembl
Innerchr3:184289440..184290191hg18UCSC Ensembl
Outerchr3:184289240..184290391hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38952
hg19952
hg18952
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732301
SamplesNA18545
Known GenesMCCC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302751
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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