A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674134



Internal ID9593553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93326708..93327841hg38UCSC Ensembl
chr10:95086465..95087598hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5771410, essv5894061, essv5516590, essv5519243, essv5761109
SamplesHG01079, NA19384, NA19451, NA19462, HG01107
Known GenesMYOF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674134
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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