A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605474



Internal ID6645718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76789709..76840353hg38UCSC Ensembl
chr5:76085534..76136178hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3850645
hg1950645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11946636
SamplesHG00146
Known GenesF2RL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605474
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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