A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598938



Internal ID6639203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184115373..184122179hg38UCSC Ensembl
chr3:183833161..183839967hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg386807
hg196807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11253168, essv11253169
SamplesNA19319, NA19372
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598938
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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