A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671046



Internal ID9590465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25459705..25461125hg38UCSC Ensembl
chr2:25682574..25683994hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381421
hg191421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5619320, essv5504057, essv5953756, essv6419042, essv5732741
SamplesNA20787, HG00122, HG01188, HG01204, NA20534
Known GenesDTNB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671046
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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