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dbVar

Database of genomic structural variation

esv3799573

Organism: Homo sapiens

Study:estd192 (COSMIC)
Variant Type:complex chromosomal rearrangement
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:401

Description:Chr12:g.(111636604_111637004)_chr12:o(11166239
3_111662793)bkpt
Publication(s):Forbes et al. 2008, Forbes et al. 2008, Stephens et al. 2009

Links to Other Resources

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

Remapped(Score: Perfect):111,198,800-111,199,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop	strand
esv3799573	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	111,198,800	111,199,200	111,198,800	111,199,200
esv3799573	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	111,224,589	111,224,989	111,224,589	111,224,989	-
esv3799573	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	111,636,604	111,637,004	111,636,604	111,637,004
esv3799573	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	111,662,393	111,662,793	111,662,393	111,662,793	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16627617	intrachromosomal translocation	1126506	Curated	Curated	96

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop	strand
essv16627617	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	111,198,800	111,199,200	111,198,800	111,199,200	not reported
essv16627617	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	111,224,589	111,224,989	111,224,589	111,224,989	-
essv16627617	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	111,636,604	111,637,004	111,636,604	111,637,004	not reported
essv16627617	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	111,662,393	111,662,793	111,662,393	111,662,793	-

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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