A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603744



Internal ID6643998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:359572..478120hg38UCSC Ensembl
chr5:359687..478235hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38118549
hg19118549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765494, essv11765495
SamplesHG01855, HG03166
Known GenesAHRR, C5orf55, EXOC3, PP7080, SLC9A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603744
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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