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dbVar

Database of genomic structural variation

esv2421291

Organism: Homo sapiens

Study:estd194 (Bentley et al. 2008)
Variant Type:insertion
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

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

Publication(s):Bentley et al. 2008

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: 157 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):7,905,429-7,905,429

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2421291	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	7,905,429	7,905,429
esv2421291	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	7,965,489	7,965,489
esv2421291	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	7,888,076	7,888,076

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4606424	insertion	NA18507	Sequencing	Split read mapping	504,912

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv4606424	Remapped	Perfect	NC_000001.11:g.790 5429_7905430insGC	GRCh38.p12	First Pass	NC_000001.11	Chr1	7,905,429	7,905,429
essv4606424	Remapped	Perfect	NC_000001.10:g.796 5489_7965490insGC	GRCh37.p13	First Pass	NC_000001.10	Chr1	7,965,489	7,965,489
essv4606424	Submitted genomic		NC_000001.9:g.7888 076_7888077insGC	NCBI36 (hg18)		NC_000001.9	Chr1	7,888,076	7,888,076

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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