esv3586643

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:36
Validation:Not tested
Clinical Assertions: No
Region Size:8,725

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 185 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):83,341,684-83,350,408

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3586643	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
esv3586643	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	83,807,367	83,816,091

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv9996297	copy number loss	SAMN00004663	Sequencing	Read depth and paired-end mapping	Heterozygous	2,670
essv9996298	copy number loss	SAMN00006376	Sequencing	Read depth and paired-end mapping	Heterozygous	2,448
essv9996299	copy number loss	SAMN00009102	Sequencing	Read depth and paired-end mapping	Heterozygous	2,537
essv9996300	copy number loss	SAMN00006380	Sequencing	Read depth and paired-end mapping	Heterozygous	2,770
essv9996301	copy number loss	SAMN00009105	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv9996302	copy number loss	SAMN00006390	Sequencing	Read depth and paired-end mapping	Heterozygous	2,374
essv9996303	copy number loss	SAMN00009111	Sequencing	Read depth and paired-end mapping	Heterozygous	2,696
essv9996304	copy number loss	SAMN00006396	Sequencing	Read depth and paired-end mapping	Heterozygous	2,475
essv9996305	copy number loss	SAMN00006427	Sequencing	Read depth and paired-end mapping	Heterozygous	2,683
essv9996306	copy number loss	SAMN01091080	Sequencing	Read depth and paired-end mapping	Heterozygous	2,121
essv9996307	copy number loss	SAMN01091081	Sequencing	Read depth and paired-end mapping	Heterozygous	2,380
essv9996308	copy number loss	SAMN00009149	Sequencing	Read depth and paired-end mapping	Heterozygous	2,802
essv9996309	copy number loss	SAMN00009245	Sequencing	Read depth and paired-end mapping	Heterozygous	2,611
essv9996310	copy number loss	SAMN00014332	Sequencing	Read depth and paired-end mapping	Heterozygous	2,788
essv9996311	copy number loss	SAMN00014333	Sequencing	Read depth and paired-end mapping	Heterozygous	2,614
essv9996312	copy number loss	SAMN00014390	Sequencing	Read depth and paired-end mapping	Heterozygous	2,690
essv9996313	copy number loss	SAMN00016848	Sequencing	Read depth and paired-end mapping	Heterozygous	2,625
essv9996314	copy number loss	SAMN00249863	Sequencing	Read depth and paired-end mapping	Heterozygous	2,686
essv9996315	copy number loss	SAMN01761631	Sequencing	Read depth and paired-end mapping	Heterozygous	2,786
essv9996316	copy number loss	SAMN00255136	Sequencing	Read depth and paired-end mapping	Heterozygous	2,803
essv9996317	copy number loss	SAMN00249946	Sequencing	Read depth and paired-end mapping	Heterozygous	2,942
essv9996318	copy number loss	SAMN00249947	Sequencing	Read depth and paired-end mapping	Heterozygous	2,822
essv9996319	copy number loss	SAMN00262975	Sequencing	Read depth and paired-end mapping	Heterozygous	3,180
essv9996320	copy number loss	SAMN01091145	Sequencing	Read depth and paired-end mapping	Heterozygous	2,731
essv9996321	copy number loss	SAMN01090906	Sequencing	Read depth and paired-end mapping	Heterozygous	2,634
essv9996322	copy number loss	SAMN00801031	Sequencing	Read depth and paired-end mapping	Heterozygous	2,625
essv9996323	copy number loss	SAMN00801352	Sequencing	Read depth and paired-end mapping	Heterozygous	2,826
essv9996324	copy number loss	SAMN00001564	Sequencing	Read depth and paired-end mapping	Heterozygous	2,923
essv9996325	copy number loss	SAMN00004472	Sequencing	Read depth and paired-end mapping	Heterozygous	2,485
essv9996326	copy number loss	SAMN00007780	Sequencing	Read depth and paired-end mapping	Heterozygous	2,316
essv9996327	copy number loss	SAMN00001244	Sequencing	Read depth and paired-end mapping	Heterozygous	2,869
essv9996328	copy number loss	SAMN00001279	Sequencing	Read depth and paired-end mapping	Heterozygous	2,431
essv9996329	copy number loss	SAMN00001311	Sequencing	Read depth and paired-end mapping	Heterozygous	2,461
essv9996330	copy number gain	SAMN00006415	Sequencing	Read depth and paired-end mapping	Heterozygous	2,782
essv9996331	copy number gain	SAMN01096677	Sequencing	Read depth and paired-end mapping	Heterozygous	2,711
essv9996332	copy number gain	SAMN01761534	Sequencing	Read depth and paired-end mapping	Heterozygous	2,929

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9996297	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996298	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996299	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996300	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996301	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996302	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996303	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996304	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996305	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996306	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996307	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996308	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996309	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996310	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996311	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996312	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996313	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996314	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996315	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996316	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996317	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996318	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996319	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996320	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996321	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996322	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996323	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996324	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996325	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996326	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996327	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996328	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996329	Remapped	Perfect	NC_000001.11:g.833 41684_83350408del	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996330	Remapped	Perfect	NC_000001.11:g.833 41684_83350408dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996331	Remapped	Perfect	NC_000001.11:g.833 41684_83350408dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996332	Remapped	Perfect	NC_000001.11:g.833 41684_83350408dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,341,684	83,350,408
essv9996297	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996298	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996299	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996300	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996301	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996302	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996303	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996304	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996305	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996306	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996307	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996308	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996309	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996310	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996311	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996312	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996313	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996314	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996315	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996316	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996317	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996318	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996319	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996320	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996321	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996322	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996323	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996324	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996325	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996326	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996327	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996328	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996329	Submitted genomic		NC_000001.10:g.838 07367_83816091del	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996330	Submitted genomic		NC_000001.10:g.838 07367_83816091dup	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996331	Submitted genomic		NC_000001.10:g.838 07367_83816091dup	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091
essv9996332	Submitted genomic		NC_000001.10:g.838 07367_83816091dup	GRCh37 (hg19)		NC_000001.10	Chr1	83,807,367	83,816,091

dbVar

Database of genomic structural variation

esv3586643

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.