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dbVar

Database of genomic structural variation

esv20846

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:Not tested
Clinical Assertions: No
Region Size:1,391

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: 76 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):41,291,965-41,293,355

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv20846	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	41,291,965	41,293,355
esv20846	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	41,685,767	41,687,157
esv20846	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	39,972,034	39,973,424

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv49609	copy number loss	NA18517	Oligo aCGH	Probe signal intensity	1,365
essv84154	copy number loss	NA19190	Oligo aCGH	Probe signal intensity	1,600

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv49609	Remapped	Perfect	NC_000012.12:g.(?_ 41291965)_(4129326 6_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	41,291,965	41,293,266
essv84154	Remapped	Perfect	NC_000012.12:g.(?_ 41291965)_(4129335 5_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	41,291,965	41,293,355
essv49609	Remapped	Perfect	NC_000012.11:g.(?_ 41685767)_(4168706 8_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	41,685,767	41,687,068
essv84154	Remapped	Perfect	NC_000012.11:g.(?_ 41685767)_(4168715 7_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	41,685,767	41,687,157
essv49609	Submitted genomic		NC_000012.10:g.(?_ 39972034)_(3997333 5_?)del	NCBI36 (hg18)		NC_000012.10	Chr12	39,972,034	39,973,335
essv84154	Submitted genomic		NC_000012.10:g.(?_ 39972034)_(3997342 4_?)del	NCBI36 (hg18)		NC_000012.10	Chr12	39,972,034	39,973,424

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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