A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349599



Internal ID15196581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123667890..123667981hg38UCSC Ensembl
Innerchr8:123667934..123667937hg38UCSC Ensembl
Outerchr8:123667846..123668025hg38UCSC Ensembl
chr8:124680130..124680221hg19UCSC Ensembl
Innerchr8:124680174..124680177hg19UCSC Ensembl
Outerchr8:124680086..124680265hg19UCSC Ensembl
chr8:124749311..124749402hg18UCSC Ensembl
Innerchr8:124749355..124749358hg18UCSC Ensembl
Outerchr8:124749267..124749446hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676979
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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