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dbVar

Database of genomic structural variation

esv3847541

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:14,409

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: 1041 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):162,331,160-162,345,574

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847541	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
esv3847541	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20474639	deletion	HG00176	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,419
essv20474640	deletion	HG00593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv20474641	deletion	HG01051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,715
essv20474642	deletion	HG01323	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv20474643	deletion	HG02032	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,634
essv20474644	deletion	HG02232	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,295
essv20474645	deletion	HG03084	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,128
essv20474646	deletion	NA19076	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20474639	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474640	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474641	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474642	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474643	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474644	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474645	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474646	Remapped	Perfect	NC_000006.12:g.(16 2331160_162331166) _(162345568_162345 574)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,331,163 (-3, +3)	162,345,571 (-3, +3)
essv20474639	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474640	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474641	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474642	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474643	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474644	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474645	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)
essv20474646	Submitted genomic		NC_000006.11:g.(16 2752192_162752198) _(162766600_162766 606)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,752,195 (-3, +3)	162,766,603 (-3, +3)

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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