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dbVar

Database of genomic structural variation

esv4008917

Organism: Homo sapiens

Study:estd231 (Wong et al. 2017)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:44,425

Publication(s):Wong et al. 2017

Links to Other Resources

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: 322 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):131,777,356-131,821,780

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv4008917	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	131,777,356	131,821,780
esv4008917	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187528.1	Chr2\|NT_18 7528.1	81,417	110,099
esv4008917	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	132,534,929	132,579,353

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype
essv26065326	inversion	Sequencing	Split read and paired-end mapping	Juvenile idiopathic arthritis

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv26065326	Remapped	Pass	NT_187528.1:g.8141 7_110099inv	GRCh38.p12	Second Pass	NT_187528.1	Chr2\|NT_18 7528.1	81,417	110,099
essv26065326	Remapped	Perfect	NC_000002.12:g.131 777356_131821780in v	GRCh38.p12	First Pass	NC_000002.12	Chr2	131,777,356	131,821,780
essv26065326	Submitted genomic		NC_000002.11:g.132 534929_132579353in v	GRCh37 (hg19)		NC_000002.11	Chr2	132,534,929	132,579,353

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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