A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676324



Internal ID9942429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102980827..102984081hg38UCSC Ensembl
Outerchr7:102980670..102984234hg38UCSC Ensembl
Innerchr7:102621274..102624528hg19UCSC Ensembl
Outerchr7:102621117..102624681hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383565
hg193565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5852997, essv5517811, essv5550105
SamplesHG01350, HG01204, HG01108
Known GenesFBXL13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676324
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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