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dbVar

Database of genomic structural variation

esv20066

Organism: Homo sapiens

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

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:18,873

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: 178 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):34,856,244-34,875,116

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv20066	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	34,856,244	34,875,116
esv20066	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	34,895,856	34,914,728
esv20066	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	34,862,381	34,881,253

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv54975	copy number loss	NA19099	Oligo aCGH	Probe signal intensity	1,498
essv58091	copy number loss	NA19108	Oligo aCGH	Probe signal intensity	1,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv54975	Remapped	Perfect	NC_000007.14:g.(?_ 34856244)_(3487119 8_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	34,856,244	34,871,198
essv58091	Remapped	Perfect	NC_000007.14:g.(?_ 34856244)_(3487511 6_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	34,856,244	34,875,116
essv54975	Remapped	Perfect	NC_000007.13:g.(?_ 34895856)_(3491081 0_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	34,895,856	34,910,810
essv58091	Remapped	Perfect	NC_000007.13:g.(?_ 34895856)_(3491472 8_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	34,895,856	34,914,728
essv54975	Submitted genomic		NC_000007.12:g.(?_ 34862381)_(3487733 5_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	34,862,381	34,877,335
essv58091	Submitted genomic		NC_000007.12:g.(?_ 34862381)_(3488125 3_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	34,862,381	34,881,253

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv54975	2	NA19099	Oligo aCGH	Probe signal intensity	Pass
essv58091	2	NA19108	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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