A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604082



Internal ID6991112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14075286..14184559hg38UCSC Ensembl
chr5:14075395..14184668hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38109274
hg19109274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11818169, essv11818170, essv11818166, essv11818167, essv11818168, essv11818171
SamplesHG03175, NA19036, HG00313, HG00285, HG00186, HG00345
Known GenesTRIO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604082
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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