A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674552



Internal ID9940657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198034476..198037886hg38UCSC Ensembl
chr1:198003606..198007016hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383411
hg193411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5976969, essv5788443, essv5597549, essv6099177, essv6193993, essv5861744, essv6026624, essv5731445, essv6258211, essv6001295, essv5568896, essv5810880, essv5605945, essv6059781, essv6575202
SamplesHG00096, NA12004, HG00337, NA20537, HG00641, HG01070, HG01083, HG01170, NA20753, HG00282, NA20770, HG01075, NA20799, NA20530, HG01437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674552
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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