A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652404



Internal ID14756751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27438386..27438772hg38UCSC Ensembl
Innerchr8:27438386..27438772hg38UCSC Ensembl
Outerchr8:27438064..27438938hg38UCSC Ensembl
chr8:27295903..27296289hg19UCSC Ensembl
Innerchr8:27295903..27296289hg19UCSC Ensembl
Outerchr8:27295581..27296455hg19UCSC Ensembl
chr8:27351820..27352206hg18UCSC Ensembl
Innerchr8:27351820..27352206hg18UCSC Ensembl
Outerchr8:27351498..27352372hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38387
hg19387
hg18387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381982
Supporting Variants
SamplesNA19240
Known GenesPTK2B
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652404
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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