A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302536



Internal ID15149483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962009..179962067hg38UCSC Ensembl
Innerchr3:179962038..179962038hg38UCSC Ensembl
Outerchr3:179961909..179962167hg38UCSC Ensembl
chr3:179679797..179679855hg19UCSC Ensembl
Innerchr3:179679826..179679826hg19UCSC Ensembl
Outerchr3:179679697..179679955hg19UCSC Ensembl
chr3:181162491..181162549hg18UCSC Ensembl
Innerchr3:181162520..181162520hg18UCSC Ensembl
Outerchr3:181162391..181162649hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731491
SamplesNA12878
Known GenesPEX5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302536
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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