A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676136



Internal ID9942241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65686307..65688845hg38UCSC Ensembl
Outerchr8:65686270..65688895hg38UCSC Ensembl
Innerchr8:66598542..66601080hg19UCSC Ensembl
Outerchr8:66598505..66601130hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382626
hg192626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5920385
SamplesHG00614
Known GenesMTFR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676136
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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