A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605183



Internal ID6992211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60102899..60141315hg38UCSC Ensembl
chr5:59398726..59437142hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3838417
hg1938417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1101e214
Supporting Variantsessv11921650
SamplesNA20863
Known GenesPDE4D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605183
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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