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dbVar

Database of genomic structural variation

esv32530

Organism: Homo sapiens

Study:estd24 (de Smith et al. 2007)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:12,899

Publication(s):de Smith et al. 2007

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: 222 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):24,613,691-24,626,589

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv32530	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	24,613,691	24,626,589
esv32530	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	25,187,829	25,200,727
esv32530	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000013.9	Chr13	24,085,829	24,098,727

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv99765	copy number gain	22086	Oligo aCGH	Probe signal intensity	362
essv98830	copy number gain	21606	Oligo aCGH	Probe signal intensity	282
essv99476	copy number loss	22335	Oligo aCGH	Probe signal intensity	206
essv98587	copy number loss	22085	Oligo aCGH	Probe signal intensity	128

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv99765	Remapped	Perfect	NC_000013.11:g.(24 613614_24613691)_( 24626589_24626727) dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,613,614	24,613,691	24,626,589	24,626,727
essv98830	Remapped	Perfect	NC_000013.11:g.(24 614113_24614191)_( 24618364_24618744) dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,614,113	24,614,191	24,618,364	24,618,744
essv99476	Remapped	Perfect	NC_000013.11:g.(24 614443_24614838)_( 24626331_24626471) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,614,443	24,614,838	24,626,331	24,626,471
essv98587	Remapped	Perfect	NC_000013.11:g.(24 617685_24617906)_( 24618226_24618364) del	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,617,685	24,617,906	24,618,226	24,618,364
essv99765	Remapped	Perfect	NC_000013.10:g.(25 187752_25187829)_( 25200727_25200865) dup	GRCh37.p13	First Pass	NC_000013.10	Chr13	25,187,752	25,187,829	25,200,727	25,200,865
essv98830	Remapped	Perfect	NC_000013.10:g.(25 188251_25188329)_( 25192502_25192882) dup	GRCh37.p13	First Pass	NC_000013.10	Chr13	25,188,251	25,188,329	25,192,502	25,192,882
essv99476	Remapped	Perfect	NC_000013.10:g.(25 188581_25188976)_( 25200469_25200609) del	GRCh37.p13	First Pass	NC_000013.10	Chr13	25,188,581	25,188,976	25,200,469	25,200,609
essv98587	Remapped	Perfect	NC_000013.10:g.(25 191823_25192044)_( 25192364_25192502) del	GRCh37.p13	First Pass	NC_000013.10	Chr13	25,191,823	25,192,044	25,192,364	25,192,502
essv99765	Submitted genomic		NC_000013.9:g.(240 85752_24085829)_(2 4098727_24098865)d up	NCBI35 (hg17)		NC_000013.9	Chr13	24,085,752	24,085,829	24,098,727	24,098,865
essv98830	Submitted genomic		NC_000013.9:g.(240 86251_24086329)_(2 4090502_24090882)d up	NCBI35 (hg17)		NC_000013.9	Chr13	24,086,251	24,086,329	24,090,502	24,090,882
essv99476	Submitted genomic		NC_000013.9:g.(240 86581_24086976)_(2 4098469_24098609)d el	NCBI35 (hg17)		NC_000013.9	Chr13	24,086,581	24,086,976	24,098,469	24,098,609
essv98587	Submitted genomic		NC_000013.9:g.(240 89823_24090044)_(2 4090364_24090502)d el	NCBI35 (hg17)		NC_000013.9	Chr13	24,089,823	24,090,044	24,090,364	24,090,502

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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