A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670196



Internal ID9589615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171892820..171893099hg38UCSC Ensembl
chr1:171861960..171862239hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5426276, essv5967352, essv5898065, essv5981870, essv6107839
SamplesNA19625, NA19404, NA19917, NA18856, NA19377
Known GenesDNM3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670196
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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