A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604132



Internal ID6991162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16528043..16532981hg38UCSC Ensembl
chr5:16528152..16533090hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg384939
hg194939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11820089, essv11820090
SamplesHG00699, NA18567
Known GenesFAM134B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604132
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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