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dbVar

Database of genomic structural variation

esv3585322

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:7,318

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: 187 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):15,858,319-15,867,636

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3585322	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
esv3585322	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv9864698	deletion	SAMN00006544	Sequencing	Read depth and paired-end mapping	Heterozygous	2,575
essv9864699	deletion	SAMN01036854	Sequencing	Read depth and paired-end mapping	Heterozygous	2,854
essv9864700	deletion	SAMN00249899	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv9864701	deletion	SAMN01091165	Sequencing	Read depth and paired-end mapping	Heterozygous	2,862
essv9864702	deletion	SAMN00000919	Sequencing	Read depth and paired-end mapping	Heterozygous	2,753
essv9864703	deletion	SAMN00001595	Sequencing	Read depth and paired-end mapping	Heterozygous	2,716
essv9864704	deletion	SAMN00001600	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv9864705	deletion	SAMN00000463	Sequencing	Read depth and paired-end mapping	Heterozygous	2,588

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9864698	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864699	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864700	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864701	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864702	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864703	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864704	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864705	Remapped	Perfect	NC_000001.11:g.(15 858319_15859819)_( 15866136_15867636) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	15,859,319 (-1000, +500)	15,866,636 (-500, +1000)
essv9864698	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864699	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864700	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864701	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864702	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864703	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864704	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-500, +1000)
essv9864705	Submitted genomic		NC_000001.10:g.(16 184814_16186314)_( 16192631_16194131) del	GRCh37 (hg19)		NC_000001.10	Chr1	16,185,814 (-1000, +500)	16,193,131 (-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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