A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14173745



Internal ID4175561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58832286..58836413hg38UCSC Ensembl
chr11:58599759..58603886hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384128
hg194128
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626525
Supporting Variants
SamplesHG03419
Known GenesGLYATL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14173745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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