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dbVar

Database of genomic structural variation

esv3880406

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: 128 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):76,448,061-76,448,061

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3880406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	76,448,061 (-0, +415)	76,448,061 (-415, +0)
esv3880406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	74,444,143 (-0, +415)	74,444,143 (-415, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24297506	insertion	HG01462	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,455

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24297506	Remapped	Perfect	NC_000017.11:g.(76 448061_76448476)_( 76447646_76448061) ins305	GRCh38.p12	First Pass	NC_000017.11	Chr17	76,448,061 (-0, +415)	76,448,061 (-415, +0)
essv24297506	Submitted genomic		NC_000017.10:g.(74 444143_74444558)_( 74443728_74444143) ins305	GRCh37 (hg19)		NC_000017.10	Chr17	74,444,143 (-0, +415)	74,444,143 (-415, +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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