A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363615



Internal ID15210593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125158357..125158362hg38UCSC Ensembl
Innerchr6:125158344..125158375hg38UCSC Ensembl
Outerchr6:125158339..125158380hg38UCSC Ensembl
chr6:125479503..125479508hg19UCSC Ensembl
Innerchr6:125479490..125479521hg19UCSC Ensembl
Outerchr6:125479485..125479526hg19UCSC Ensembl
chr6:125521202..125521207hg18UCSC Ensembl
Innerchr6:125521220..125521189hg18UCSC Ensembl
Outerchr6:125521184..125521225hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864645, essv7864646
SamplesNA19172, NA18871
Known GenesTPD52L1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363615
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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