A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303473



Internal ID14803735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:98137968..98137969hg38UCSC Ensembl
Innerchr10:98137923..98138014hg38UCSC Ensembl
Outerchr10:98137922..98138015hg38UCSC Ensembl
chr10:99897725..99897726hg19UCSC Ensembl
Innerchr10:99897680..99897771hg19UCSC Ensembl
Outerchr10:99897679..99897772hg19UCSC Ensembl
chr10:99887715..99887716hg18UCSC Ensembl
Innerchr10:99887761..99887670hg18UCSC Ensembl
Outerchr10:99887669..99887762hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754073, essv7747123, essv7752808
SamplesNA19114, NA18505, NA18853
Known GenesR3HCC1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303473
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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