A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302534



Internal ID15149481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47686724..47686827hg38UCSC Ensembl
Innerchr1:47686775..47686775hg38UCSC Ensembl
Outerchr1:47686624..47686927hg38UCSC Ensembl
chr1:48152396..48152499hg19UCSC Ensembl
Innerchr1:48152447..48152447hg19UCSC Ensembl
Outerchr1:48152296..48152599hg19UCSC Ensembl
chr1:47924983..47925086hg18UCSC Ensembl
Innerchr1:47925034..47925034hg18UCSC Ensembl
Outerchr1:47924883..47925186hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731335
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302534
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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