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dbVar

Database of genomic structural variation

esv2524854

Organism: Homo sapiens

Study:estd197 (McKernan et al. 2009)
Variant Type:insertion
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,460

Description:originalFile=Yoruban_large_indels_8.4x.gff
Publication(s):McKernan et al. 2009

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: 367 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):10,149,696-10,150,137

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv2524854	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	10,149,696	10,150,137
esv2524854	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654717.1	Chr8\|NW_01 8654717.1	3,197,257	3,198,716
esv2524854	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	10,007,206	10,007,647
esv2524854	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	10,044,616	10,045,057

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5263905	insertion	NA18507	Sequencing	Paired-end mapping	232,775

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv5263905	Remapped	Pass	NW_018654717.1:g.( 3197257_?)_(?_3198 716)ins?	GRCh38.p12	Second Pass	NW_018654717.1	Chr8\|NW_01 8654717.1	3,197,257	3,198,716
essv5263905	Remapped	Perfect	NC_000008.11:g.(10 149696_?)_(?_10150 137)ins?	GRCh38.p12	First Pass	NC_000008.11	Chr8	10,149,696	10,150,137
essv5263905	Remapped	Perfect	NC_000008.10:g.(10 007206_?)_(?_10007 647)ins?	GRCh37.p13	First Pass	NC_000008.10	Chr8	10,007,206	10,007,647
essv5263905	Submitted genomic		NC_000008.9:g.(100 44616_?)_(?_100450 57)ins?	NCBI36 (hg18)		NC_000008.9	Chr8	10,044,616	10,045,057

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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