A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598001



Internal ID6638266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142177134..142371204hg38UCSC Ensembl
chr3:141895976..142090046hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38194071
hg19194071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11164631, essv11164629, essv11164630
SamplesNA12144, NA20542, NA20807
Known GenesGK5, XRN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598001
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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