A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118985



Internal ID4120801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46176556..46312868hg38UCSC Ensembl
chr11:46198107..46334419hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38136313
hg19136313
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626181
Supporting Variants
SamplesHG02734
Known GenesCREB3L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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