A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441155



Internal ID14941422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27438467..27438467hg38UCSC Ensembl
Innerchr8:27438466..27438468hg38UCSC Ensembl
Outerchr8:27438417..27438517hg38UCSC Ensembl
chr8:27295984..27295984hg19UCSC Ensembl
Innerchr8:27295983..27295985hg19UCSC Ensembl
Outerchr8:27295934..27296034hg19UCSC Ensembl
chr8:27351901..27351901hg18UCSC Ensembl
Innerchr8:27351902..27351900hg18UCSC Ensembl
Outerchr8:27351851..27351951hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38530
hg19530
hg18530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653581, essv8653580, essv8653579
SamplesNA19239, NA19238, NA19240
Known GenesPTK2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441155
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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