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dbVar

Database of genomic structural variation

esv21310

Organism: Homo sapiens

Study:estd20 (Conrad et al. 2009)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:18,616

Publication(s):Conrad et al. 2009

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: 628 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):160,840,070-160,858,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv21310	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	160,840,070	160,858,685
esv21310	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	161,261,102	161,279,717
esv21310	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	161,181,092	161,199,707

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv69330	copy number gain	NA12044	Oligo aCGH	Probe signal intensity	1,055
essv78898	copy number loss	NA12749	Oligo aCGH	Probe signal intensity	1,232
essv77805	copy number gain	NA06985	Oligo aCGH	Probe signal intensity	1,144
essv43920	copy number loss	NA18909	Oligo aCGH	Probe signal intensity	1,535
essv67188	copy number loss	NA12828	Oligo aCGH	Probe signal intensity	1,072

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv69330	Remapped	Perfect	NC_000006.12:g.(?_ 160840070)_(160858 685_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,840,070	160,858,685
essv78898	Remapped	Perfect	NC_000006.12:g.(?_ 160840180)_(160858 639_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,840,180	160,858,639
essv77805	Remapped	Perfect	NC_000006.12:g.(?_ 160840548)_(160858 584_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,840,548	160,858,584
essv43920	Remapped	Perfect	NC_000006.12:g.(?_ 160840768)_(160858 340_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,840,768	160,858,340
essv67188	Remapped	Perfect	NC_000006.12:g.(?_ 160840834)_(160858 529_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,840,834	160,858,529
essv69330	Remapped	Perfect	NC_000006.11:g.(?_ 161261102)_(161279 717_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,261,102	161,279,717
essv78898	Remapped	Perfect	NC_000006.11:g.(?_ 161261212)_(161279 671_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,261,212	161,279,671
essv77805	Remapped	Perfect	NC_000006.11:g.(?_ 161261580)_(161279 616_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,261,580	161,279,616
essv43920	Remapped	Perfect	NC_000006.11:g.(?_ 161261800)_(161279 372_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,261,800	161,279,372
essv67188	Remapped	Perfect	NC_000006.11:g.(?_ 161261866)_(161279 561_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,261,866	161,279,561
essv69330	Submitted genomic		NC_000006.10:g.(?_ 161181092)_(161199 707_?)dup	NCBI36 (hg18)		NC_000006.10	Chr6	161,181,092	161,199,707
essv78898	Submitted genomic		NC_000006.10:g.(?_ 161181202)_(161199 661_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	161,181,202	161,199,661
essv77805	Submitted genomic		NC_000006.10:g.(?_ 161181570)_(161199 606_?)dup	NCBI36 (hg18)		NC_000006.10	Chr6	161,181,570	161,199,606
essv43920	Submitted genomic		NC_000006.10:g.(?_ 161181790)_(161199 362_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	161,181,790	161,199,362
essv67188	Submitted genomic		NC_000006.10:g.(?_ 161181856)_(161199 551_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	161,181,856	161,199,551

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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