A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302852



Internal ID15149800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75581263..75582086hg38UCSC Ensembl
Innerchr13:75581363..75581986hg38UCSC Ensembl
Outerchr13:75581163..75582186hg38UCSC Ensembl
chr13:76155399..76156222hg19UCSC Ensembl
Innerchr13:76155499..76156122hg19UCSC Ensembl
Outerchr13:76155299..76156322hg19UCSC Ensembl
chr13:75053400..75054223hg18UCSC Ensembl
Innerchr13:75053500..75054123hg18UCSC Ensembl
Outerchr13:75053300..75054323hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38824
hg19824
hg18824
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732669, essv7736976, essv7732793, essv7736608, essv7734281
SamplesNA11920, NA12750, NA11918, NA07347, NA12749
Known GenesUCHL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302852
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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