A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14320181



Internal ID4323401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134276952..134344689hg38UCSC Ensembl
chr11:134146846..134214583hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3867738
hg1967738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628164
Supporting Variants
SamplesHG03870
Known GenesGLB1L2, GLB1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14320181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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