A curated catalogue of human genomic structural variation


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- Overview
chromosome
- Details
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Cytogenetic Bands
DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown)
RefSeq Genes
UCSC segmental duplications
Disease Genes (OMIM)
DECIPHER Genomic Disorders
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- Tracks
- Breakpoints
   
Breakpoint annotations from Lam et al (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?] Annotations from Conrad et al [?] Breakpoint annotations from Pang 2012 (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?]
- CGH Arrays
   
Clones on WGTP Array [?] Clones on SMRT BAC Array [?] NimbleGen 385K Whole Genome Array [?]
Agilent 244k [?] Cytochip V3.0 [?] 
- CN Assays
   
Life Technologies TaqMan Copy Number Assays [?]  
- Chromosome
   
Cytogenetic Bands [?] Assembly [?] Gap [?]
- Clones
   
Clone [?] BAC End Pairs [?] Fosmid End Pairs [?]
- Disease
   
ISCA Curated clinically relevant regions [?] Disease Genes (OMIM) [?] DECIPHER: Chromosomal Imbalance and Phenotype in Humans (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?]
ISCA Clinical cytogenetic testing (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?] DECIPHER Genomic Disorders [?] 
- Gene
   
RefSeq Genes [?] mRNA [?] microRNA [?]
- General
   
Personal Genome Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] SNPs [?] RepeatMasker [?]
dbRIP [?] Recombination hotspots [?] 
- SNP Arrays
   
AFFY SNP Array 5.0 [?] ILMN HumanHap 550 [?] ILMN HumanHap 1M [?]
AFFY SNP Array 6.0 [?] ILMN HumanHap 650Y [?] 
ILMN HumanHap 300 [?] ILMN Human 660W [?] 
- Segmental Duplications
   
WSSD duplications [?] UCSC segmental duplications [?] 
- Study Variants
   
DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] DGV Version 1 Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] 
Supporting Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inverison;Black:Unknown) [?] Unannotated Studies (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] 
- Overview
   
Chromosome (overview)   

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