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dbVar

Database of genomic structural variation

esv3611465

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:517,762

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: 2410 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):161,567,624-162,085,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3611465	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	161,567,774 (-150, +150)	162,085,535 (-150, +150)
esv3611465	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	161,988,806 (-150, +150)	162,506,567 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12617795	duplication	SAMN00009098	Sequencing	Read depth and paired-end mapping	Heterozygous	2,704

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12617795	Remapped	Perfect	NC_000006.12:g.(16 1567624_161567924) _(162085385_162085 685)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	161,567,774 (-150, +150)	162,085,535 (-150, +150)
essv12617795	Submitted genomic		NC_000006.11:g.(16 1988656_161988956) _(162506417_162506 717)dup	GRCh37 (hg19)		NC_000006.11	Chr6	161,988,806 (-150, +150)	162,506,567 (-150, +150)

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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