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dbVar

Database of genomic structural variation

esv2757271

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:177,471

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: 664 SVs from 65 studies. See in: genome view

Remapped(Score: Good):49,502,674-49,680,144

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757271	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	49,502,674	49,680,144
esv2757271	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	50,415,233	50,592,704
esv2757271	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000008.9	Chr8	50,577,786	50,755,257

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv1067	copy number gain	NA18990	SNP array	SNP genotyping analysis	77
essv3935	copy number gain	NA18970	SNP array	SNP genotyping analysis	100
essv5070	copy number gain	NA18570	SNP array	SNP genotyping analysis	83

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv1067	Remapped	Perfect	NC_000008.11:g.(49 502674_49522718)_( 49617594_49634948) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	49,502,674	49,522,718	49,617,594	49,634,948
essv3935	Remapped	Perfect	NC_000008.11:g.(49 519454_49522718)_( 49617594_49634948) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	49,519,454	49,522,718	49,617,594	49,634,948
essv5070	Remapped	Good	NC_000008.11:g.(49 519454_49519454)_( 49680144_49680144) dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	49,519,454	49,519,454	49,680,144	49,680,144
essv1067	Remapped	Perfect	NC_000008.10:g.(50 415233_50435277)_( 50530153_50547507) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	50,415,233	50,435,277	50,530,153	50,547,507
essv3935	Remapped	Perfect	NC_000008.10:g.(50 432013_50435277)_( 50530153_50547507) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	50,432,013	50,435,277	50,530,153	50,547,507
essv5070	Remapped	Perfect	NC_000008.10:g.(50 432013_50432013)_( 50530153_50592704) dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	50,432,013	50,432,013	50,530,153	50,592,704
essv1067	Submitted genomic		NC_000008.9:g.(505 77786_50597830)_(5 0692706_50710060)d up	NCBI35 (hg17)		NC_000008.9	Chr8	50,577,786	50,597,830	50,692,706	50,710,060
essv3935	Submitted genomic		NC_000008.9:g.(505 94566_50597830)_(5 0692706_50710060)d up	NCBI35 (hg17)		NC_000008.9	Chr8	50,594,566	50,597,830	50,692,706	50,710,060
essv5070	Submitted genomic		NC_000008.9:g.(505 94566_50594566)_(5 0692706_50755257)d up	NCBI35 (hg17)		NC_000008.9	Chr8	50,594,566	50,594,566	50,692,706	50,755,257

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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