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dbVar

Database of genomic structural variation

esv1230002

Organism: Homo sapiens

Study:estd22 (Levy et al. 2007)
Variant Type:inversion
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,677

Publication(s):Levy et al. 2007

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: 487 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):248,505,359-248,507,035

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv1230002	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	248,505,359	248,507,035
esv1230002	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187646.1	Chr1\|NT_18 7646.1	155,777	157,453
esv1230002	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187518.1	Chr1\|NT_18 7518.1	159,399	161,075
esv1230002	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	248,668,660	248,670,336
esv1230002	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	246,735,283	246,736,959

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv3873678	inversion	HuRef	Sequencing	Sequence alignment	780,358

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv3873678	Remapped	Perfect	NT_187646.1:g.1557 77_157453inv	GRCh38.p12	Second Pass	NT_187646.1	Chr1\|NT_18 7646.1	155,777	157,453
essv3873678	Remapped	Perfect	NT_187518.1:g.1593 99_161075inv	GRCh38.p12	Second Pass	NT_187518.1	Chr1\|NT_18 7518.1	159,399	161,075
essv3873678	Remapped	Perfect	NC_000001.11:g.248 505359_248507035in v	GRCh38.p12	First Pass	NC_000001.11	Chr1	248,505,359	248,507,035
essv3873678	Remapped	Perfect	NC_000001.10:g.248 668660_248670336in v	GRCh37.p13	First Pass	NC_000001.10	Chr1	248,668,660	248,670,336
essv3873678	Submitted genomic		NC_000001.9:g.2467 35283_246736959inv	NCBI36 (hg18)		NC_000001.9	Chr1	246,735,283	246,736,959

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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