A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627304



Internal ID7014134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93967302..94034964hg38UCSC Ensembl
chr11:93700468..93768130hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3867663
hg1967663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14241696
SamplesNA19377
Known GenesHEPHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627304
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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