A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302769



Internal ID15149717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:147967515..147967728hg38UCSC Ensembl
Innerchr3:147967615..147967628hg38UCSC Ensembl
Outerchr3:147967415..147967828hg38UCSC Ensembl
chr3:147685302..147685515hg19UCSC Ensembl
Innerchr3:147685402..147685415hg19UCSC Ensembl
Outerchr3:147685202..147685615hg19UCSC Ensembl
chr3:149167992..149168205hg18UCSC Ensembl
Innerchr3:149168092..149168105hg18UCSC Ensembl
Outerchr3:149167892..149168305hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2818e59
Supporting Variantsessv7736016, essv7738538, essv7731803, essv7736443, essv7736526, essv7735836, essv7733038, essv7734459, essv7732759, essv7734334, essv7737677, essv7733433, essv7737969, essv7738002, essv7734251, essv7737570, essv7737230, essv7731986
SamplesNA19190, NA18870, NA12750, NA18940, NA18916, NA18964, NA19238, NA12828, NA18579, NA19257, NA12144, NA19240, NA07051, NA12763, NA06986, NA18501, NA07000, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302769
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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