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dbVar

Database of genomic structural variation

esv21278

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:20,620

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: 56 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):135,537-156,156

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv21278	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NT_113793.3	Chr4\|NT_11 3793.3	135,537	156,156
esv21278	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	142,670,971	142,691,590
esv21278	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	141,612,494	141,633,113

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv67243	copy number gain	NA12828	Oligo aCGH	Probe signal intensity	1,072
essv51848	copy number loss	NA12006	Oligo aCGH	Probe signal intensity	1,080

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv67243	Remapped	Perfect	NT_113793.3:g.(?_1 35537)_(151980_?)d up	GRCh38.p12	First Pass	NT_113793.3	Chr4\|NT_11 3793.3	135,537	151,980
essv51848	Remapped	Perfect	NT_113793.3:g.(?_1 36387)_(156156_?)d el	GRCh38.p12	First Pass	NT_113793.3	Chr4\|NT_11 3793.3	136,387	156,156
essv67243	Remapped	Perfect	NC_000001.10:g.(?_ 142670971)_(142687 414_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	142,670,971	142,687,414
essv51848	Remapped	Perfect	NC_000001.10:g.(?_ 142671821)_(142691 590_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	142,671,821	142,691,590
essv67243	Submitted genomic		NC_000001.9:g.(?_1 41612494)_(1416289 37_?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	141,612,494	141,628,937
essv51848	Submitted genomic		NC_000001.9:g.(?_1 41613344)_(1416331 13_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	141,613,344	141,633,113

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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