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dbVar

Database of genomic structural variation

esv3641443

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:24,561

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: 399 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):82,907,924-82,933,484

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3641443	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
esv3641443	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15771159	deletion	SAMN00006433	Sequencing	Read depth and paired-end mapping	Heterozygous	2,389
essv15771160	deletion	SAMN00006516	Sequencing	Read depth and paired-end mapping	Heterozygous	2,414
essv15771161	deletion	SAMN00006517	Sequencing	Read depth and paired-end mapping	Heterozygous	2,223
essv15771162	deletion	SAMN00006531	Sequencing	Read depth and paired-end mapping	Heterozygous	2,378
essv15771163	deletion	SAMN00000386	Sequencing	Read depth and paired-end mapping	Heterozygous	2,456
essv15771164	deletion	SAMN00007813	Sequencing	Read depth and paired-end mapping	Heterozygous	2,983
essv15771165	deletion	SAMN00007818	Sequencing	Read depth and paired-end mapping	Heterozygous	2,857

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15771159	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771160	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771161	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771162	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771163	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771164	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771165	Remapped	Perfect	NC_000017.11:g.(82 907924_82908424)_( 82932984_82933484) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,908,424 (-500, +0)	82,932,984 (-0, +500)
essv15771159	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)
essv15771160	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)
essv15771161	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)
essv15771162	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)
essv15771163	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)
essv15771164	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)
essv15771165	Submitted genomic		NC_000017.10:g.(80 865800_80866300)_( 80890860_80891360) del	GRCh37 (hg19)		NC_000017.10	Chr17	80,866,300 (-500, +0)	80,890,860 (-0, +500)

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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