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dbVar

Database of genomic structural variation

esv3826891

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:18,654

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: 198 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):161,692,623-161,712,276

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3826891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	161,693,123 (-500, +0)	161,711,776 (-0, +500)
esv3826891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	162,549,633 (-500, +0)	162,568,286 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17946384	deletion	HG03455	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,774
essv17946385	deletion	NA18984	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,502
essv17946386	deletion	NA19355	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,702

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17946384	Remapped	Perfect	NC_000002.12:g.(16 1692623_161693123) _(161711776_161712 276)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,693,123 (-500, +0)	161,711,776 (-0, +500)
essv17946385	Remapped	Perfect	NC_000002.12:g.(16 1692623_161693123) _(161711776_161712 276)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,693,123 (-500, +0)	161,711,776 (-0, +500)
essv17946386	Remapped	Perfect	NC_000002.12:g.(16 1692623_161693123) _(161711776_161712 276)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,693,123 (-500, +0)	161,711,776 (-0, +500)
essv17946384	Submitted genomic		NC_000002.11:g.(16 2549133_162549633) _(162568286_162568 786)del	GRCh37 (hg19)		NC_000002.11	Chr2	162,549,633 (-500, +0)	162,568,286 (-0, +500)
essv17946385	Submitted genomic		NC_000002.11:g.(16 2549133_162549633) _(162568286_162568 786)del	GRCh37 (hg19)		NC_000002.11	Chr2	162,549,633 (-500, +0)	162,568,286 (-0, +500)
essv17946386	Submitted genomic		NC_000002.11:g.(16 2549133_162549633) _(162568286_162568 786)del	GRCh37 (hg19)		NC_000002.11	Chr2	162,549,633 (-500, +0)	162,568,286 (-0, +500)

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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