esv3639061

Organism: Homo sapiens

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

Variant Calls:37
Validation:Not tested
Clinical Assertions: No
Region Size:16,787

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: 370 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):74,337,347-74,354,133

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3639061	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
esv3639061	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	74,371,245	74,388,031

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15516734	copy number loss	SAMN00004645	Sequencing	Read depth and paired-end mapping	Heterozygous	2,148
essv15516735	copy number loss	SAMN00016965	Sequencing	Read depth and paired-end mapping	Heterozygous	2,566
essv15516736	copy number loss	SAMN00009122	Sequencing	Read depth and paired-end mapping	Heterozygous	2,787
essv15516737	copy number loss	SAMN00009128	Sequencing	Read depth and paired-end mapping	Heterozygous	2,953
essv15516738	copy number loss	SAMN00014321	Sequencing	Read depth and paired-end mapping	Heterozygous	2,208
essv15516739	copy number loss	SAMN01091115	Sequencing	Read depth and paired-end mapping	Heterozygous	2,894
essv15516740	copy number loss	SAMN01091125	Sequencing	Read depth and paired-end mapping	Heterozygous	2,183
essv15516741	copy number loss	SAMN00016850	Sequencing	Read depth and paired-end mapping	Heterozygous	2,746
essv15516742	copy number loss	SAMN00016854	Sequencing	Read depth and paired-end mapping	Heterozygous	2,755
essv15516743	copy number loss	SAMN01761631	Sequencing	Read depth and paired-end mapping	Heterozygous	2,786
essv15516744	copy number loss	SAMN01761633	Sequencing	Read depth and paired-end mapping	Heterozygous	2,248
essv15516745	copy number loss	SAMN01091135	Sequencing	Read depth and paired-end mapping	Heterozygous	2,465
essv15516746	copy number loss	SAMN01761365	Sequencing	Read depth and paired-end mapping	Heterozygous	2,771
essv15516747	copy number loss	SAMN00779988	Sequencing	Read depth and paired-end mapping	Heterozygous	3,242
essv15516748	copy number loss	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv15516749	copy number loss	SAMN01090971	Sequencing	Read depth and paired-end mapping	Heterozygous	2,750
essv15516750	copy number loss	SAMN01090972	Sequencing	Read depth and paired-end mapping	Heterozygous	2,778
essv15516751	copy number loss	SAMN01090989	Sequencing	Read depth and paired-end mapping	Heterozygous	2,695
essv15516752	copy number loss	SAMN01096746	Sequencing	Read depth and paired-end mapping	Heterozygous	2,682
essv15516753	copy number loss	SAMN01096792	Sequencing	Read depth and paired-end mapping	Heterozygous	2,575
essv15516754	copy number loss	SAMN01096690	Sequencing	Read depth and paired-end mapping	Heterozygous	2,633
essv15516755	copy number loss	SAMN01091037	Sequencing	Read depth and paired-end mapping	Heterozygous	2,565
essv15516756	copy number loss	SAMN00801103	Sequencing	Read depth and paired-end mapping	Heterozygous	2,713
essv15516757	copy number loss	SAMN00801770	Sequencing	Read depth and paired-end mapping	Heterozygous	2,626
essv15516758	copy number loss	SAMN00001134	Sequencing	Read depth and paired-end mapping	Heterozygous	2,950
essv15516759	copy number loss	SAMN00001165	Sequencing	Read depth and paired-end mapping	Heterozygous	3,272
essv15516760	copy number loss	SAMN00001262	Sequencing	Read depth and paired-end mapping	Heterozygous	2,878
essv15516761	copy number loss	SAMN00001309	Sequencing	Read depth and paired-end mapping	Heterozygous	2,712
essv15516762	copy number loss	SAMN00001320	Sequencing	Read depth and paired-end mapping	Heterozygous	2,903
essv15516763	copy number gain	SAMN00006552	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756
essv15516764	copy number gain	SAMN00014416	Sequencing	Read depth and paired-end mapping	Heterozygous	2,582
essv15516765	copy number gain	SAMN01761259	Sequencing	Read depth and paired-end mapping	Heterozygous	2,594
essv15516766	copy number gain	SAMN01761488	Sequencing	Read depth and paired-end mapping	Heterozygous	2,895
essv15516767	copy number gain	SAMN00801646	Sequencing	Read depth and paired-end mapping	Heterozygous	2,822
essv15516768	copy number gain	SAMN00001147	Sequencing	Read depth and paired-end mapping	Heterozygous	3,043
essv15516769	copy number gain	SAMN00001153	Sequencing	Read depth and paired-end mapping	Heterozygous	3,021
essv15516770	copy number gain	SAMN00001156	Sequencing	Read depth and paired-end mapping	Heterozygous	2,984

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15516734	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516735	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516736	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516737	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516738	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516739	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516740	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516741	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516742	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516743	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516744	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516745	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516746	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516747	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516748	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516749	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516750	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516751	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516752	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516753	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516754	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516755	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516756	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516757	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516758	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516759	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516760	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516761	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516762	Remapped	Perfect	NC_000016.10:g.743 37347_74354133del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516763	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516764	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516765	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516766	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516767	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516768	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516769	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516770	Remapped	Perfect	NC_000016.10:g.743 37347_74354133dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,337,347	74,354,133
essv15516734	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516735	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516736	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516737	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516738	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516739	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516740	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516741	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516742	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516743	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516744	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516745	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516746	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516747	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516748	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516749	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516750	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516751	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516752	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516753	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516754	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516755	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516756	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516757	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516758	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516759	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516760	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516761	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516762	Submitted genomic		NC_000016.9:g.7437 1245_74388031del	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516763	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516764	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516765	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516766	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516767	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516768	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516769	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031
essv15516770	Submitted genomic		NC_000016.9:g.7437 1245_74388031dup	GRCh37 (hg19)		NC_000016.9	Chr16	74,371,245	74,388,031

dbVar

Database of genomic structural variation

esv3639061

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.