A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14219949



Internal ID949349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83845752..83884180hg38UCSC Ensembl
chr11:83556795..83595223hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3838429
hg1938429
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627027
Supporting Variants
SamplesHG00581
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14219949
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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