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dbVar

Database of genomic structural variation

esv3822743

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:225,925

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: 906 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):242,643,711-242,869,635

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3822743	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	242,643,711	242,869,635
esv3822743	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	242,807,013	243,032,937

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17504581	duplication	NA19475	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,150

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17504581	Remapped	Perfect	NC_000001.11:g.242 643711_242869635du p	GRCh38.p12	First Pass	NC_000001.11	Chr1	242,643,711	242,869,635
essv17504581	Submitted genomic		NC_000001.10:g.242 807013_243032937du p	GRCh37 (hg19)		NC_000001.10	Chr1	242,807,013	243,032,937

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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