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dbVar

Database of genomic structural variation

esv3603503

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:22,975

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: 547 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):185,476,488-185,499,578

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3603503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
esv3603503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11739578	deletion	SAMN00014372	Sequencing	Read depth and paired-end mapping	Heterozygous	2,821
essv11739579	deletion	SAMN01096751	Sequencing	Read depth and paired-end mapping	Heterozygous	2,759
essv11739580	deletion	SAMN01096693	Sequencing	Read depth and paired-end mapping	Heterozygous	2,734
essv11739581	deletion	SAMN00801485	Sequencing	Read depth and paired-end mapping	Heterozygous	2,720
essv11739582	deletion	SAMN00001560	Sequencing	Read depth and paired-end mapping	Heterozygous	2,742
essv11739583	deletion	SAMN00000407	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11739578	Remapped	Perfect	NC_000004.12:g.(18 5476488_185476604) _(185499462_185499 578)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
essv11739579	Remapped	Perfect	NC_000004.12:g.(18 5476488_185476604) _(185499462_185499 578)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
essv11739580	Remapped	Perfect	NC_000004.12:g.(18 5476488_185476604) _(185499462_185499 578)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
essv11739581	Remapped	Perfect	NC_000004.12:g.(18 5476488_185476604) _(185499462_185499 578)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
essv11739582	Remapped	Perfect	NC_000004.12:g.(18 5476488_185476604) _(185499462_185499 578)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
essv11739583	Remapped	Perfect	NC_000004.12:g.(18 5476488_185476604) _(185499462_185499 578)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	185,476,546 (-58, +58)	185,499,520 (-58, +58)
essv11739578	Submitted genomic		NC_000004.11:g.(18 6397642_186397758) _(186420616_186420 732)del	GRCh37 (hg19)		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)
essv11739579	Submitted genomic		NC_000004.11:g.(18 6397642_186397758) _(186420616_186420 732)del	GRCh37 (hg19)		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)
essv11739580	Submitted genomic		NC_000004.11:g.(18 6397642_186397758) _(186420616_186420 732)del	GRCh37 (hg19)		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)
essv11739581	Submitted genomic		NC_000004.11:g.(18 6397642_186397758) _(186420616_186420 732)del	GRCh37 (hg19)		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)
essv11739582	Submitted genomic		NC_000004.11:g.(18 6397642_186397758) _(186420616_186420 732)del	GRCh37 (hg19)		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)
essv11739583	Submitted genomic		NC_000004.11:g.(18 6397642_186397758) _(186420616_186420 732)del	GRCh37 (hg19)		NC_000004.11	Chr4	186,397,700 (-58, +58)	186,420,674 (-58, +58)

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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