A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14310275



Internal ID4312091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129746746..129828859hg38UCSC Ensembl
chr11:129616641..129698754hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3882114
hg1982114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628071
Supporting Variants
SamplesNA19038
Known GenesTMEM45B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14310275
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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