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dbVar

Database of genomic structural variation

esv3888204

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:8
Validation:Not tested
Clinical Assertions: No
Region Size:151,122

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: 903 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):8,228,920-8,382,041

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888204	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
esv3888204	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25167448	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25167449	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25167450	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25167451	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25167452	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25167453	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25167454	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25167455	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
essv25167448	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167449	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167450	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167451	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167452	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167453	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167454	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167455	Remapped	Perfect	NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	8,229,920 (-1000, +500)	8,381,041 (-500, +1000)
essv25167448	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167449	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167450	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167451	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167452	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167453	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167454	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)
essv25167455	Submitted genomic		NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del	GRCh37 (hg19)		NC_000023.10	ChrX	8,197,961 (-1000, +500)	8,349,082 (-500, +1000)

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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