esv3888431

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:11
Validation:Not tested
Clinical Assertions: No
Region Size:49,415

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: 687 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):22,928,529-22,979,943

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888431	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
esv3888431	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25225797	deletion	HG00357	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,038
essv25225798	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25225799	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25225800	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25225801	deletion	NA18973	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,356
essv25225802	deletion	NA18980	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,378
essv25225803	deletion	NA18988	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,938
essv25225804	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25225805	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25225806	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25225807	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
essv25225797	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225798	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225799	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225800	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225801	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225802	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225803	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225804	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225805	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225806	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225807	Remapped	Perfect	NC_000023.11:g.(22 928529_22930029)_( 22978443_22979943) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,929,529 (-1000, +500)	22,978,943 (-500, +1000)
essv25225797	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225798	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225799	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225800	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225801	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225802	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225803	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225804	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225805	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225806	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)
essv25225807	Submitted genomic		NC_000023.10:g.(22 946646_22948146)_( 22996560_22998060) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,947,646 (-1000, +500)	22,997,060 (-500, +1000)

dbVar

Database of genomic structural variation

esv3888431

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.