A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303003



Internal ID15149951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:82414987..82415106hg38UCSC Ensembl
Innerchr1:82415046..82415046hg38UCSC Ensembl
Outerchr1:82414887..82415206hg38UCSC Ensembl
chr1:82880670..82880789hg19UCSC Ensembl
Innerchr1:82880729..82880729hg19UCSC Ensembl
Outerchr1:82880570..82880889hg19UCSC Ensembl
chr1:82653258..82653377hg18UCSC Ensembl
Innerchr1:82653317..82653317hg18UCSC Ensembl
Outerchr1:82653158..82653477hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38120
hg19120
hg18120
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737274, essv7737155, essv7734080, essv7736892, essv7735819, essv7732608
SamplesNA18508, NA10851, NA12287, NA12144, NA19108, NA18517
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303003
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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