A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596381



Internal ID6983696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62956283..63091452hg38UCSC Ensembl
chr3:62941958..63077128hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38135170
hg19135171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11026587, essv11026588
SamplesHG03096, HG03577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596381
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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