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dbVar

Database of genomic structural variation

esv33147

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:5
Validation:Not tested
Clinical Assertions: No
Region Size:44,146

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: 290 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):13,375,423-13,419,568

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv33147	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	13,375,423	13,419,568
esv33147	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	13,515,548	13,559,693
esv33147	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	13,466,146	13,510,291

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv99664	copy number loss	22217	Oligo aCGH	Probe signal intensity	182
essv97591	copy number loss	21616	Oligo aCGH	Probe signal intensity	158
essv97258	copy number loss	22075	Oligo aCGH	Probe signal intensity	208
essv100371	copy number loss	22300	Oligo aCGH	Probe signal intensity	163
essv94210	copy number loss	22394	Oligo aCGH	Probe signal intensity	161

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv99664	Remapped	Perfect	NC_000002.12:g.(13 352959_13375423)_( 13412404_13416666) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,352,959	13,375,423	13,412,404	13,416,666
essv97591	Remapped	Perfect	NC_000002.12:g.(13 352959_13375423)_( 13419568_13429074) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,352,959	13,375,423	13,419,568	13,429,074
essv97258	Remapped	Perfect	NC_000002.12:g.(13 383816_13387125)_( 13412404_13416666) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,383,816	13,387,125	13,412,404	13,416,666
essv100371	Remapped	Perfect	NC_000002.12:g.(13 392281_13399932)_( 13406849_13412404) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,392,281	13,399,932	13,406,849	13,412,404
essv94210	Remapped	Perfect	NC_000002.12:g.(13 399932_13406849)_( 13412404_13416666) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,399,932	13,406,849	13,412,404	13,416,666
essv99664	Remapped	Perfect	NC_000002.11:g.(13 493084_13515548)_( 13552529_13556791) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	13,493,084	13,515,548	13,552,529	13,556,791
essv97591	Remapped	Perfect	NC_000002.11:g.(13 493084_13515548)_( 13559693_13569199) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	13,493,084	13,515,548	13,559,693	13,569,199
essv97258	Remapped	Perfect	NC_000002.11:g.(13 523941_13527250)_( 13552529_13556791) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	13,523,941	13,527,250	13,552,529	13,556,791
essv100371	Remapped	Perfect	NC_000002.11:g.(13 532406_13540057)_( 13546974_13552529) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	13,532,406	13,540,057	13,546,974	13,552,529
essv94210	Remapped	Perfect	NC_000002.11:g.(13 540057_13546974)_( 13552529_13556791) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	13,540,057	13,546,974	13,552,529	13,556,791
essv99664	Submitted genomic		NC_000002.9:g.(134 43682_13466146)_(1 3503127_13507389)d el	NCBI35 (hg17)		NC_000002.9	Chr2	13,443,682	13,466,146	13,503,127	13,507,389
essv97591	Submitted genomic		NC_000002.9:g.(134 43682_13466146)_(1 3510291_13519797)d el	NCBI35 (hg17)		NC_000002.9	Chr2	13,443,682	13,466,146	13,510,291	13,519,797
essv97258	Submitted genomic		NC_000002.9:g.(134 74539_13477848)_(1 3503127_13507389)d el	NCBI35 (hg17)		NC_000002.9	Chr2	13,474,539	13,477,848	13,503,127	13,507,389
essv100371	Submitted genomic		NC_000002.9:g.(134 83004_13490655)_(1 3497572_13503127)d el	NCBI35 (hg17)		NC_000002.9	Chr2	13,483,004	13,490,655	13,497,572	13,503,127
essv94210	Submitted genomic		NC_000002.9:g.(134 90655_13497572)_(1 3503127_13507389)d el	NCBI35 (hg17)		NC_000002.9	Chr2	13,490,655	13,497,572	13,503,127	13,507,389

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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