The terms “haplotype” and “haplogroup” are used to refer to a set of genetic variants that define individual genotypes and the genetic lineages or clusters to which they belong, based on shared mutations. The mutations used to define haplotypes and haplogroups include single nucleotide polymorphisms (SNPs), indels, and short tandem repeats (STRs), which are linked together in the segment of DNA in which they occur. This DNA segment may consist of a portion of a gene or noncoding sequence, a gene, a genome (e.g., mitochondrial DNA or Y‐chromosome), or a larger piece of a chromosome. This entry describes the genetic basis for identifying haplotypes and haplogroups in genetic studies, and discusses the insights into human population history obtained from this research.