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

dbVar

Database of genomic structural variation

esv2757442

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:117,058

Publication(s):Redon et al. 2006

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: 407 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):49,260,364-49,377,421

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757442	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	49,260,364	49,377,421
esv2757442	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	49,281,916	49,398,973
esv2757442	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000011.8	Chr11	49,238,492	49,355,549

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv14209	copy number loss	NA18913	SNP array	SNP genotyping analysis	132
essv12054	copy number loss	NA19238	SNP array	SNP genotyping analysis	80
essv13502	copy number loss	NA18914	SNP array	SNP genotyping analysis	96

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv14209	Remapped	Perfect	NC_000011.10:g.(49 260364_49291683)_( 49339049_49339136) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	49,260,364	49,291,683	49,339,049	49,339,136
essv12054	Remapped	Perfect	NC_000011.10:g.(49 276915_49289400)_( 49339049_49377421) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	49,276,915	49,289,400	49,339,049	49,377,421
essv13502	Remapped	Perfect	NC_000011.10:g.(49 281261_49291683)_( 49339049_49339136) del	GRCh38.p12	First Pass	NC_000011.10	Chr11	49,281,261	49,291,683	49,339,049	49,339,136
essv14209	Remapped	Perfect	NC_000011.9:g.(492 81916_49313235)_(4 9360601_49360688)d el	GRCh37.p13	First Pass	NC_000011.9	Chr11	49,281,916	49,313,235	49,360,601	49,360,688
essv12054	Remapped	Perfect	NC_000011.9:g.(492 98467_49310952)_(4 9360601_49398973)d el	GRCh37.p13	First Pass	NC_000011.9	Chr11	49,298,467	49,310,952	49,360,601	49,398,973
essv13502	Remapped	Perfect	NC_000011.9:g.(493 02813_49313235)_(4 9360601_49360688)d el	GRCh37.p13	First Pass	NC_000011.9	Chr11	49,302,813	49,313,235	49,360,601	49,360,688
essv14209	Submitted genomic		NC_000011.8:g.(492 38492_49269811)_(4 9317177_49317264)d el	NCBI35 (hg17)		NC_000011.8	Chr11	49,238,492	49,269,811	49,317,177	49,317,264
essv12054	Submitted genomic		NC_000011.8:g.(492 55043_49267528)_(4 9317177_49355549)d el	NCBI35 (hg17)		NC_000011.8	Chr11	49,255,043	49,267,528	49,317,177	49,355,549
essv13502	Submitted genomic		NC_000011.8:g.(492 59389_49269811)_(4 9317177_49317264)d el	NCBI35 (hg17)		NC_000011.8	Chr11	49,259,389	49,269,811	49,317,177	49,317,264

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