A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604017



Internal ID6991047
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1071e214
Supporting Variantsessv11814115, essv11814108, essv11814109, essv11814111, essv11814114, essv11814112, essv11814113, essv11814110
SamplesHG04001, HG04206, HG04180, HG03823, NA19467, NA19316, HG02060, HG03886
Known GenesCTNND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604017
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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