Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3803242

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:
Chr4:g.o(45942831_45943231)_chr4:(46073116_46073516)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: 97 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):45,940,814-45,941,214

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
esv3803242	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	45,940,814	45,941,214	45,940,814	45,941,214	-
esv3803242	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	46,071,099	46,071,499	46,071,099	46,071,499
esv3803242	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	45,942,831	45,943,231	45,942,831	45,943,231	-
esv3803242	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	46,073,116	46,073,516	46,073,116	46,073,516

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16631711	intrachromosomal translocation	1126078	Curated	Curated	115

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop	strand
essv16631711	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	45,940,814	45,941,214	45,940,814	45,941,214	-
essv16631711	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	46,071,099	46,071,499	46,071,099	46,071,499	not reported
essv16631711	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	45,942,831	45,943,231	45,942,831	45,943,231	-
essv16631711	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	46,073,116	46,073,516	46,073,116	46,073,516	not reported

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

You are here: NCBI