Genomic Variants in Human Genome (Build GRCh37: Feb. 2009, hg19): 4.45 kbp from chr12:112,842,994..112,847,443

Breakpoints

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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

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Agilent 244k [?]

Clones on SMRT BAC Array [?]

CN Assays

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Life Technologies TaqMan Copy Number Assays [?]

Chromosome

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Cytogenetic Bands [?]

Assembly [?]

Gap [?]

Clones

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BAC End Pairs [?]

Fosmid End Pairs [?]

Disease

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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

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RefSeq Genes [?]

mRNA [?]

microRNA [?]

General

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Personal Genome Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	SNPs [?]
dbRIP [?]	RepeatMasker [?]

SNP Arrays

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Segmental Duplications

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UCSC segmental duplications [?]

Study Variants

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DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	Unannotated Studies (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss) [?]
Supporting Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inverison;Black:Unknown) [?]	Nat. Rev. Gen. CNV Map - Inclusive (blue=Gain; red=Loss; brown=Gain+Loss) [?]	OPGP Affymetrix CytoHD Variants (blue=Gain; red=Loss; solidbox=AFFY_FILTER; solidline=MULTI_ALGO; dashedline=ONLY_CHAS) [?]
DGV Version 1 Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	Nat. Rev. Gen. CNV Map - Stringent (blue=Gain; red=Loss; brown=Gain+Loss) [?]

Overview

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Chromosome (overview)

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Landmark or Region: Examples: chr7:71890181..72690180, CFTR, AC108171.3, nsv529033.
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