A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14278417



Internal ID4280233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108509006..108580807hg38UCSC Ensembl
chr11:108379733..108451534hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3871802
hg1971802
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627680
Supporting Variants
SamplesHG03668
Known GenesEXPH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14278417
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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