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dbVar

Database of genomic structural variation

esv12537

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:22,446

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: 3049 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):32,522,002-32,544,447

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv12537	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,522,002	32,544,447
esv12537	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	32,489,779	32,512,224
esv12537	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_3	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	3,825,082	3,836,625
esv12537	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	32,597,757	32,620,202

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv50192	copy number loss	NA18517	Oligo aCGH	Probe signal intensity	1,365
essv70990	copy number loss	NA18916	Oligo aCGH	Probe signal intensity	1,538

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv50192	Remapped	Pass	NT_167246.2:g.(?_3 824251)_(3833179_? )del	GRCh38.p12	Second Pass	NT_167246.2	Chr6\|NT_16 7246.2	3,824,251	3,833,179
essv50192	Remapped	Pass	NT_167249.2:g.(?_3 833381)_(3843883_? )del	GRCh38.p12	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	3,833,381	3,843,883
essv50192	Remapped	Pass	NT_167247.2:g.(?_3 858983)_(3869486_? )del	GRCh38.p12	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,858,983	3,869,486
essv70990	Remapped	Perfect	NC_000006.12:g.(?_ 32522002)_(3254444 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,522,002	32,544,447
essv50192	Remapped	Perfect	NC_000006.12:g.(?_ 32529578)_(3254444 7_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,529,578	32,544,447
essv70990	Remapped	Pass	NT_167245.1:g.(?_3 825082)_(3836625_? )delNT_167245.1:g. (?_3825082)_(38366 25_?)del	GRCh37.p13	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	3,825,082	3,836,625
essv50192	Remapped	Pass	NT_167249.1:g.(?_3 832679)_(3843181_? )del	GRCh37.p13	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	3,832,679	3,843,181
essv50192	Remapped	Pass	NT_167247.1:g.(?_3 864568)_(3875071_? )delNT_167247.1:g. (?_3864568)_(38750 71_?)del	GRCh37.p13	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,864,568	3,875,071
essv70990	Remapped	Perfect	NC_000006.11:g.(?_ 32489779)_(3251222 4_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,489,779	32,512,224
essv50192	Remapped	Perfect	NC_000006.11:g.(?_ 32497355)_(3251222 4_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,497,355	32,512,224
essv70990	Submitted genomic		NC_000006.10:g.(?_ 32597757)_(3262020 2_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	32,597,757	32,620,202
essv50192	Submitted genomic		NC_000006.10:g.(?_ 32605333)_(3262020 2_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	32,605,333	32,620,202

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv50192	2	NA18517	Oligo aCGH	Probe signal intensity	Pass
essv70990	2	NA18916	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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