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dbVar

Database of genomic structural variation

esv3612789

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:24,880

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: 189 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):34,050,296-34,075,225

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3612789	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	34,050,321 (-25, +25)	34,075,200 (-25, +25)
esv3612789	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	34,089,933 (-25, +25)	34,114,812 (-25, +25)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12726005	deletion	SAMN00004666	Sequencing	Read depth and paired-end mapping	Heterozygous	2,758
essv12726006	deletion	SAMN00801352	Sequencing	Read depth and paired-end mapping	Heterozygous	2,826

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12726005	Remapped	Perfect	NC_000007.14:g.(34 050296_34050346)_( 34075175_34075225) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	34,050,321 (-25, +25)	34,075,200 (-25, +25)
essv12726006	Remapped	Perfect	NC_000007.14:g.(34 050296_34050346)_( 34075175_34075225) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	34,050,321 (-25, +25)	34,075,200 (-25, +25)
essv12726005	Submitted genomic		NC_000007.13:g.(34 089908_34089958)_( 34114787_34114837) del	GRCh37 (hg19)		NC_000007.13	Chr7	34,089,933 (-25, +25)	34,114,812 (-25, +25)
essv12726006	Submitted genomic		NC_000007.13:g.(34 089908_34089958)_( 34114787_34114837) del	GRCh37 (hg19)		NC_000007.13	Chr7	34,089,933 (-25, +25)	34,114,812 (-25, +25)

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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