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dbVar

Database of genomic structural variation

esv3889965

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

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: 406 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):123,225,604-123,225,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889965	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	123,225,604	123,225,604
esv3889965	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	122,359,455	122,359,455

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25596012	line1 insertion	HG01795	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,412

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25596012	Remapped	Perfect	NC_000023.11:g.123 225604_123225605in s323	GRCh38.p12	First Pass	NC_000023.11	ChrX	123,225,604	123,225,604
essv25596012	Submitted genomic		NC_000023.10:g.122 359455_122359456in s323	GRCh37 (hg19)		NC_000023.10	ChrX	122,359,455	122,359,455

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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