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dbVar

Database of genomic structural variation

esv3866005

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:313,614

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: 1020 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):133,084,832-133,398,445

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3866005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	133,084,832	133,398,445
esv3866005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	132,954,727	133,268,340

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22627418	duplication	NA20763	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,547

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22627418	Remapped	Perfect	NC_000011.10:g.133 084832_133398445du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	133,084,832	133,398,445
essv22627418	Submitted genomic		NC_000011.9:g.1329 54727_133268340dup	GRCh37 (hg19)		NC_000011.9	Chr11	132,954,727	133,268,340

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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