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dbVar

Database of genomic structural variation

esv3817727

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:17,337

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: 489 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):12,448,396-12,465,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817727	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
esv3817727	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16915946	deletion	SAMN00016971	Sequencing	Read depth and paired-end mapping	Heterozygous	2,465
essv16915947	deletion	SAMN00009103	Sequencing	Read depth and paired-end mapping	Heterozygous	2,711
essv16915948	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16915949	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16915950	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16915951	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16915952	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16915953	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16915954	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16915946	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915947	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915948	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915949	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915950	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915951	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915952	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915953	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915954	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv16915946	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915947	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915948	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915949	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915950	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915951	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915952	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915953	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv16915954	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)

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.

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