A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5720740



Internal ID8698143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27402209..27405296hg38UCSC Ensembl
Outerchr8:27402172..27405346hg38UCSC Ensembl
Innerchr8:27259726..27262813hg19UCSC Ensembl
Outerchr8:27259689..27262863hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673904
Supporting Variants
SamplesNA19401
Known GenesPTK2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5720740
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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