A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603748



Internal ID6644002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:453680..475646hg38UCSC Ensembl
chr5:453795..475761hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3821967
hg1921967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765504, essv11765503
SamplesHG01855, HG03166
Known GenesEXOC3, PP7080, SLC9A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603748
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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