A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672311



Internal ID9591730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133122305..133134558hg38UCSC Ensembl
chr11:132992200..133004453hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3812254
hg1912254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6287087, essv6106170, essv5741599, essv5860434
SamplesHG01441, NA12400, HG00640, NA12283
Known GenesOPCML
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672311
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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