A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675172



Internal ID9941277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54883191..54896138hg38UCSC Ensembl
chr6:54747989..54760936hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3812948
hg1912948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5591594
SamplesNA18487
Known GenesFAM83B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675172
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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