A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596593



Internal ID6983907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75098423..75130452hg38UCSC Ensembl
chr3:75147574..75179603hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3832030
hg1932030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11041778, essv11041777, essv11041761, essv11041772, essv11041770, essv11041767, essv11041762, essv11041774, essv11041766, essv11041775, essv11041768, essv11041771, essv11041764, essv11041763, essv11041765, essv11041776, essv11041779, essv11041773, essv11041769, essv11041760, essv11041780
SamplesHG03773, HG03788, HG03995, HG04029, HG01847, HG03861, HG03786, HG03756, HG03871, HG04017, HG03672, HG03720, NA21113, HG03866, HG04026, HG04003, HG04023, HG03896, HG03894, HG02774, HG04153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596593
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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