A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406295



Internal ID15253257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32885019..32885043hg38UCSC Ensembl
Innerchr8:32885022..32885037hg38UCSC Ensembl
Outerchr8:32884998..32885064hg38UCSC Ensembl
chr8:32742537..32742561hg19UCSC Ensembl
Innerchr8:32742540..32742555hg19UCSC Ensembl
Outerchr8:32742516..32742582hg19UCSC Ensembl
chr8:32862079..32862103hg18UCSC Ensembl
Innerchr8:32862097..32862082hg18UCSC Ensembl
Outerchr8:32862058..32862124hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8939376, essv8939382, essv8939381, essv8939375, essv8939377, essv8939374, essv8939379, essv8939378
SamplesNA18508, NA18870, NA19138, NA18498, NA18871, NA18912, NA18853, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406295
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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