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dbVar

Database of genomic structural variation

esv3870304

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type: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: 219 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):49,238,696-49,238,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3870304	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	49,238,696 (-0, +3)	49,238,696 (-3, +0)
esv3870304	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	49,812,832 (-0, +3)	49,812,832 (-3, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23126575	insertion	NA20528	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,614

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23126575	Remapped	Perfect	NC_000013.11:g.(49 238696_49238699)_( 49238693_49238696) ins1466	GRCh38.p12	First Pass	NC_000013.11	Chr13	49,238,696 (-0, +3)	49,238,696 (-3, +0)
essv23126575	Submitted genomic		NC_000013.10:g.(49 812832_49812835)_( 49812829_49812832) ins1466	GRCh37 (hg19)		NC_000013.10	Chr13	49,812,832 (-0, +3)	49,812,832 (-3, +0)

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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