esv3889359

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:26
Validation:Not tested
Clinical Assertions: No
Region Size:31,965

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 461 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):81,493,084-81,525,051

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889359	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
esv3889359	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25443821	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25443822	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25443823	deletion	HG01170	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,673
essv25443824	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25443825	deletion	HG01440	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,606
essv25443826	deletion	HG02013	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv25443827	deletion	HG02282	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,052
essv25443828	deletion	HG02322	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv25443829	deletion	HG02508	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,622
essv25443830	deletion	HG03432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,484
essv25443831	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25443832	deletion	HG03515	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,017
essv25443833	deletion	NA18520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv25443834	deletion	NA18878	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,104
essv25443835	deletion	NA18924	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,028
essv25443836	deletion	NA19030	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,929
essv25443837	deletion	NA19129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv25443838	deletion	NA19235	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,962
essv25443839	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25443840	deletion	NA19454	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,986
essv25443841	deletion	NA19908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,927
essv25443842	deletion	NA20282	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,065
essv25443843	deletion	NA20339	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,646
essv25443844	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25443845	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25443846	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25443821	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443822	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443823	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443824	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443825	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443826	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443827	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443828	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443829	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443830	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443831	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443832	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443833	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443834	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443835	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443836	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443837	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443838	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443839	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443840	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443841	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443842	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443843	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443844	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443845	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443846	Remapped	Perfect	NC_000023.11:g.(81 493084_81493087)_( 81525048_81525051) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	81,493,085 (-1, +2)	81,525,049 (-1, +2)
essv25443821	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443822	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443823	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443824	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443825	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443826	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443827	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443828	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443829	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443830	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443831	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443832	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443833	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443834	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443835	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443836	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443837	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443838	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443839	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443840	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443841	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443842	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443843	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443844	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443845	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)
essv25443846	Submitted genomic		NC_000023.10:g.(80 748583_80748586)_( 80780547_80780550) del	GRCh37 (hg19)		NC_000023.10	ChrX	80,748,584 (-1, +2)	80,780,548 (-1, +2)

dbVar

Database of genomic structural variation

esv3889359

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.