A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11814111



Internal ID4500777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11166030..11179810hg38UCSC Ensembl
chr5:11166142..11179922hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3813781
hg1913781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604017
Supporting Variants
SamplesHG04001
Known GenesCTNND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11814111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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