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dbVar

Database of genomic structural variation

esv3596306

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:17,203

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: 324 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):60,390,852-60,408,594

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3596306	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	60,391,135 (-283, +0)	60,408,337 (-0, +257)
esv3596306	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	60,376,868 (-283, +0)	60,394,070 (-0, +257)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11025706	deletion	SAMN00249687	Sequencing	Read depth and paired-end mapping	Heterozygous	2,706
essv11025707	deletion	SAMN00779957	Sequencing	Read depth and paired-end mapping	Heterozygous	3,122

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11025706	Remapped	Perfect	NC_000003.12:g.(60 390852_60391135)_( 60408337_60408594) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	60,391,135 (-283, +0)	60,408,337 (-0, +257)
essv11025707	Remapped	Perfect	NC_000003.12:g.(60 390852_60391135)_( 60408337_60408594) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	60,391,135 (-283, +0)	60,408,337 (-0, +257)
essv11025706	Submitted genomic		NC_000003.11:g.(60 376585_60376868)_( 60394070_60394327) del	GRCh37 (hg19)		NC_000003.11	Chr3	60,376,868 (-283, +0)	60,394,070 (-0, +257)
essv11025707	Submitted genomic		NC_000003.11:g.(60 376585_60376868)_( 60394070_60394327) del	GRCh37 (hg19)		NC_000003.11	Chr3	60,376,868 (-283, +0)	60,394,070 (-0, +257)

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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