A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361750



Internal ID15208728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30043797..30043811hg38UCSC Ensembl
Innerchr8:30043776..30043832hg38UCSC Ensembl
Outerchr8:30043762..30043846hg38UCSC Ensembl
chr8:29901313..29901327hg19UCSC Ensembl
Innerchr8:29901292..29901348hg19UCSC Ensembl
Outerchr8:29901278..29901362hg19UCSC Ensembl
chr8:30020855..30020869hg18UCSC Ensembl
Innerchr8:30020890..30020834hg18UCSC Ensembl
Outerchr8:30020820..30020904hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864828, essv7864829
SamplesNA19172, NA18520
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361750
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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