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

dbVar

Database of genomic structural variation

esv3793681

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:Chr21:g.o(38469618_38470018)_chr21:(46815089_4
6815489)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: 235 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):37,097,318-37,097,718

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
esv3793681	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	37,097,318	37,097,718	37,097,318	37,097,718	-
esv3793681	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	45,395,174	45,395,574	45,395,174	45,395,574
esv3793681	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	38,469,618	38,470,018	38,469,618	38,470,018	-
esv3793681	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	46,815,089	46,815,489	46,815,089	46,815,489

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16621028	intrachromosomal translocation	1126084	Curated	Curated	246

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop	strand
essv16621028	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	37,097,318	37,097,718	37,097,318	37,097,718	-
essv16621028	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	45,395,174	45,395,574	45,395,174	45,395,574	not reported
essv16621028	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	38,469,618	38,470,018	38,469,618	38,470,018	-
essv16621028	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	46,815,089	46,815,489	46,815,089	46,815,489	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