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dbVar

Database of genomic structural variation

esv29958

Organism: Homo sapiens

Study:estd21 (Wheeler et al. 2008)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Fail
Clinical Assertions: No
Region Size:171,475

Publication(s):Wheeler et al. 2008

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: 4202 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):32,510,376-32,554,152

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv29958	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,510,376	32,554,152
esv29958	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	3,824,251	3,995,725
esv29958	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	32,478,153	32,521,929
esv29958	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	32,586,131	32,629,907

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv84197	copy number gain	WATSON	Oligo aCGH	Probe signal intensity	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv84197	Remapped	Pass	NT_167246.2:g.(?_3 824251)_(3995725_? )dup	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	3,824,251	3,995,725
essv84197	Remapped	Perfect	NC_000006.12:g.(?_ 32510376)_(3255415 2_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,510,376	32,554,152
essv84197	Remapped	Perfect	NC_000006.11:g.(?_ 32478153)_(3252192 9_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,478,153	32,521,929
essv84197	Submitted genomic		NC_000006.10:g.(?_ 32586131)_(3262990 7_?)dup	NCBI36 (hg18)		NC_000006.10	Chr6	32,586,131	32,629,907

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv84197	2	WATSON	Oligo aCGH	Probe signal intensity	Fail
essv84197	4	WATSON	Oligo aCGH	Probe signal intensity	Fail
essv84197	3	WATSON	Sequencing	Read depth	Fail

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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