Homo sapiens (ID 51) - Genome

Homo sapiens (human)
Reference genome: Homo sapiens (assembly GRCh38.p13)
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ID: 51

Organism Overview ; Genome Assembly and Annotation report [908] ; Organelle Annotation Report [25]

Homo sapiens (human)

Human genome projects have generated an unprecedented amount of knowledge about human genetics and health.

Lineage: Eukaryota[6688]; Metazoa[2841]; Chordata[1686]; Craniata[1665]; Vertebrata[1665]; Euteleostomi[1649]; Mammalia[450]; Eutheria[426]; Euarchontoglires[162]; Primates[60]; Haplorrhini[41]; Catarrhini[29]; Hominidae[6]; Homo[1]; Homo sapiens[1]

Study of the human condition such as genetic and infectious disease, the intersection between genetics and the environment, and population variation is supported by a wealth of genome-scale data. These data sets include: a) numerous sequenced genomes including several which have been assembled; b) studies that examine transcript and protein existence, More...

Summary

Sequence data:

genome assemblies: 908; sequence reads: 599

(See Genome Assembly and Annotation report)

Statistics:

median total length (Mb): 2859.97

median protein count: 122962

median GC%: 40.4

NCBI Annotation Release:

109

Publications (limited to 20 most recent records)

Establishment of an eHAP1 human haploid cell line hybrid reference genome assembled from short and long reads. Law WD, et al. Genomics 2020 May
Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information. Chen Z, et al. Genome Res 2020 Jun
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Wenger AM, et al. Nat Biotechnol 2019 Oct
De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations. Wong KHY, et al. Nat Commun 2018 Aug 2
Long-read sequencing and de novo assembly of a Chinese genome. Shi L, et al. Nat Commun 2016 Jun 30
De novo assembly and phasing of a Korean human genome. Seo JS, et al. Nature 2016 Oct 13
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. Mohajeri K, et al. Genome Res 2016 Nov
Assessing structural variation in a personal genome-towards a human reference diploid genome. English AC, et al. BMC Genomics 2015 Apr 11
Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. Berlin K, et al. Nat Biotechnol 2015 Jun
Assembly and diploid architecture of an individual human genome via single-molecule technologies. Pendleton M, et al. Nat Methods 2015 Aug
Centromere reference models for human chromosomes X and Y satellite arrays. Miga KH, et al. Genome Res 2014 Apr
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Antonacci F, et al. Nat Genet 2014 Dec
Single haplotype assembly of the human genome from a hydatidiform mole. Steinberg KM, et al. Genome Res 2014 Dec
Using population admixture to help complete maps of the human genome. Genovese G, et al. Nat Genet 2013 Apr
Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. Watson CT, et al. Am J Hum Genet 2013 Apr 4
Independent specialization of the human and mouse X chromosomes for the male germ line. Mueller JL, et al. Nat Genet 2013 Sep
A mitogenomic phylogeny of living primates. Finstermeier K, et al. PLoS One 2013
Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes. Genovese G, et al. Am J Hum Genet 2013 Sep 5
The shared genomic architecture of human nucleolar organizer regions. Floutsakou I, et al. Genome Res 2013 Dec
DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution. Falconer E, et al. Nat Methods 2012 Nov

More...

Representative (genome information for reference and representative genomes)

Reference genome:

Homo sapiens GRCh38.p13

Submitter: Genome Reference Consortium

Type	Name	RefSeq	INSDC	Size (Mb)	GC%	Protein	rRNA	tRNA	Other RNA	Gene	Pseudogene
Chr	1	NC_000001.11	CM000663.2	248.96	42.3	11,288	17	90	4,612	5,091	1,414

Chr	2	NC_000002.12	CM000664.2	242.19	40.3	8,519	-	7	3,834	3,879	1,204

Chr	3	NC_000003.12	CM000665.2	198.3	39.7	7,566	-	4	2,869	2,988	912

Chr	4	NC_000004.12	CM000666.2	190.22	38.3	4,763	-	1	2,258	2,443	806

Chr	5	NC_000005.10	CM000667.2	181.54	39.5	4,892	-	17	2,263	2,603	793

Chr	6	NC_000006.12	CM000668.2	170.81	39.6	5,756	-	138	2,588	3,020	893

Chr	7	NC_000007.14	CM000669.2	159.35	40.7	5,359	-	22	2,482	2,782	913

Chr	8	NC_000008.11	CM000670.2	145.14	40.2	4,157	-	4	2,018	2,172	678

Chr	9	NC_000009.12	CM000671.2	138.4	42.3	4,764	-	3	2,284	2,275	725

Chr	10	NC_000010.11	CM000672.2	133.8	41.6	5,518	-	3	2,231	2,181	643

Chr	11	NC_000011.10	CM000673.2	135.09	41.6	6,800	-	13	2,543	2,920	840

Chr	12	NC_000012.12	CM000674.2	133.28	40.8	6,190	-	9	2,575	2,540	701

Chr	13	NC_000013.11	CM000675.2	114.36	40.2	2,116	-	4	1,290	1,384	475

Chr	14	NC_000014.9	CM000676.2	107.04	42.2	3,590	-	18	1,746	2,061	587

Chr	15	NC_000015.10	CM000677.2	101.99	43.4	3,632	-	9	1,838	1,827	572

Chr	16	NC_000016.10	CM000678.2	90.34	45.1	4,697	-	27	1,823	1,955	486

Chr	17	NC_000017.11	CM000679.2	83.26	45.3	6,269	-	33	2,298	2,461	577

Chr	18	NC_000018.10	CM000680.2	80.37	39.8	2,052	-	1	1,001	985	301

Chr	19	NC_000019.10	CM000681.2	58.62	47.9	6,944	-	6	2,001	2,494	527

Chr	20	NC_000020.11	CM000682.2	64.44	43.9	2,871	-	-	1,360	1,359	343

Chr	21	NC_000021.9	CM000683.2	46.71	42.2	1,291	12	1	715	778	208

Chr	22	NC_000022.11	CM000684.2	50.82	47.7	2,525	-	-	1,034	1,186	358

Chr	X	NC_000023.11	CM000685.2	156.04	39.6	3,830	-	4	1,297	2,220	913

Chr	Y	NC_000024.10	CM000686.2	57.23	45.4	335	-	-	321	583	398

	MT	NC_012920.1	J01415.2	0.02	44.4	13	2	22	-	37	-

Un	-	.	-	183.8	44.3	7,225	33	161	4,057	7,014	2,076

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Representative (genome information for reference and representative genomes)

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