A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671709



Internal ID9937814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144492586..144495687hg38UCSC Ensembl
chr8:145717969..145721070hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5438384, essv5750164, essv6586149
SamplesNA20808, NA12283, NA12342
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671709
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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