A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599420



Internal ID6986467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3058474..3067962hg38UCSC Ensembl
chr4:3060201..3069689hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg389489
hg199489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317271, essv11317297, essv11317292, essv11317278, essv11317270, essv11317268, essv11317274, essv11317295, essv11317298, essv11317289, essv11317284, essv11317296, essv11317282, essv11317283, essv11317266, essv11317285, essv11317267, essv11317263, essv11317275, essv11317272, essv11317290, essv11317281, essv11317258, essv11317288, essv11317287, essv11317286, essv11317279, essv11317294, essv11317261, essv11317293, essv11317276, essv11317291, essv11317264, essv11317280, essv11317265, essv11317260, essv11317273, essv11317262, essv11317299, essv11317269, essv11317259, essv11317277
SamplesHG01060, NA19397, HG03163, HG02419, NA18917, HG03298, HG03280, NA19314, HG02895, HG03572, HG03224, NA19189, HG02545, HG03267, HG02479, HG03061, NA19175, NA18871, HG02976, HG03294, HG03123, HG02429, NA18879, NA19042, HG02881, NA19452, HG02332, NA19160, HG02568, HG02675, NA19206, NA19309, NA19834, NA19712, HG01551, HG03433, HG02558, HG03442, NA19223, HG03066, NA19102, HG02861
Known GenesHTT-AS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599420
Frequency
Sample Size2504
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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