A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658665



Internal ID9578084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179095258..179097564hg38UCSC Ensembl
chr1:179064393..179066699hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6070929, essv6066392
SamplesHG00553, NA19777
Known GenesTOR3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658665
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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