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dbVar

Database of genomic structural variation

esv2421301

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: 341 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):43,548,125-43,548,125

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2421301	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	43,548,125	43,548,125
esv2421301	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	44,968,006	44,968,006
esv2421301	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000021.7	Chr21	43,792,434	43,792,434

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4559351	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
essv4559351	Remapped	Perfect	NC_000021.9:g.4354 8125_43548126insC	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,548,125	43,548,125
essv4559351	Remapped	Perfect	NC_000021.8:g.4496 8006_44968007insC	GRCh37.p13	First Pass	NC_000021.8	Chr21	44,968,006	44,968,006
essv4559351	Submitted genomic		NC_000021.7:g.4379 2434_43792435insC	NCBI36 (hg18)		NC_000021.7	Chr21	43,792,434	43,792,434

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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