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dbVar

Database of genomic structural variation

esv3847562

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:6
Validation:Not tested
Clinical Assertions: No
Region Size:41,308

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

Remapped(Score: Perfect):162,498,222-162,539,529

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847562	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
esv3847562	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,919,254	162,960,561

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20475476	copy number loss	HG00593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv20475477	copy number loss	HG01323	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv20475478	copy number loss	HG02182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,322
essv20475479	copy number gain	HG02702	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,121
essv20475480	copy number gain	NA18620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv20475481	copy number gain	NA20787	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,600

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20475476	Remapped	Perfect	NC_000006.12:g.162 498222_162539529de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
essv20475477	Remapped	Perfect	NC_000006.12:g.162 498222_162539529de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
essv20475478	Remapped	Perfect	NC_000006.12:g.162 498222_162539529de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
essv20475479	Remapped	Perfect	NC_000006.12:g.162 498222_162539529du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
essv20475480	Remapped	Perfect	NC_000006.12:g.162 498222_162539529du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
essv20475481	Remapped	Perfect	NC_000006.12:g.162 498222_162539529du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,498,222	162,539,529
essv20475476	Submitted genomic		NC_000006.11:g.162 919254_162960561de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,919,254	162,960,561
essv20475477	Submitted genomic		NC_000006.11:g.162 919254_162960561de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,919,254	162,960,561
essv20475478	Submitted genomic		NC_000006.11:g.162 919254_162960561de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,919,254	162,960,561
essv20475479	Submitted genomic		NC_000006.11:g.162 919254_162960561du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,919,254	162,960,561
essv20475480	Submitted genomic		NC_000006.11:g.162 919254_162960561du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,919,254	162,960,561
essv20475481	Submitted genomic		NC_000006.11:g.162 919254_162960561du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,919,254	162,960,561

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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