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dbVar

Database of genomic structural variation

esv13730

Organism: Homo sapiens

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

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:19,012

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: 653 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):19,188,501-19,207,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv13730	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	19,188,501	19,207,512
esv13730	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	19,780,194	19,799,205
esv13730	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000014.7	Chr14	18,850,194	18,869,205

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv50028	copy number loss	NA18517	Oligo aCGH	Probe signal intensity	1,365
essv78416	copy number gain	NA06985	Oligo aCGH	Probe signal intensity	1,144
essv81151	copy number loss	NA19114	Oligo aCGH	Probe signal intensity	1,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv50028	Remapped	Perfect	NC_000014.9:g.(?_1 9188501)_(19207512 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	19,188,501	19,207,512
essv78416	Remapped	Perfect	NC_000014.9:g.(?_1 9191445)_(19207035 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	19,191,445	19,207,035
essv81151	Remapped	Perfect	NC_000014.9:g.(?_1 9191523)_(19206334 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	19,191,523	19,206,334
essv50028	Remapped	Perfect	NC_000014.8:g.(?_1 9780194)_(19799205 _?)del	GRCh37.p13	First Pass	NC_000014.8	Chr14	19,780,194	19,799,205
essv78416	Remapped	Perfect	NC_000014.8:g.(?_1 9780671)_(19796261 _?)dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	19,780,671	19,796,261
essv81151	Remapped	Perfect	NC_000014.8:g.(?_1 9781372)_(19796183 _?)del	GRCh37.p13	First Pass	NC_000014.8	Chr14	19,781,372	19,796,183
essv50028	Submitted genomic		NC_000014.7:g.(?_1 8850194)_(18869205 _?)del	NCBI36 (hg18)		NC_000014.7	Chr14	18,850,194	18,869,205
essv78416	Submitted genomic		NC_000014.7:g.(?_1 8850671)_(18866261 _?)dup	NCBI36 (hg18)		NC_000014.7	Chr14	18,850,671	18,866,261
essv81151	Submitted genomic		NC_000014.7:g.(?_1 8851372)_(18866183 _?)del	NCBI36 (hg18)		NC_000014.7	Chr14	18,851,372	18,866,183

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv78416	2	NA06985	Oligo aCGH	Probe signal intensity	Pass
essv50028	2	NA18517	Oligo aCGH	Probe signal intensity	Pass
essv81151	2	NA19114	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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