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dbVar

Database of genomic structural variation

esv2979015

Organism: Homo sapiens

Study:estd209 (Pang et al. 2014b)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:43

Publication(s):Pang et al. 2014

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: 131 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):25,001,221-25,001,263

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2979015	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	25,001,221	25,001,263
esv2979015	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	25,397,188	25,397,230

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7248582	insertion	HuRef	Sequencing	Split read mapping	471,817

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv7248582	Remapped	Perfect	NC_000022.11:g.250 01221_25001263insT GTATGTGTGTGTATATGT ATGTGTGTGTGTGTATGT GTGTGTA	GRCh38.p12	First Pass	NC_000022.11	Chr22	25,001,221	25,001,263
essv7248582	Submitted genomic		NC_000022.10:g.253 97188_25397230insT GTATGTGTGTGTATATGT ATGTGTGTGTGTGTATGT GTGTGTA	GRCh37 (hg19)		NC_000022.10	Chr22	25,397,188	25,397,230

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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