A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678131



Internal ID9597550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29302591..29319855hg38UCSC Ensembl
chr3:29344082..29361346hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3817265
hg1917265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5772214
SamplesHG01133
Known GenesRBMS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678131
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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