A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14252225



Internal ID4543190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101529147..101566764hg38UCSC Ensembl
chr11:101399878..101437495hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3837618
hg1937618
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627513
Supporting Variants
SamplesHG04038
Known GenesTRPC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14252225
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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