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dbVar

Database of genomic structural variation

esv15813

Organism: Homo sapiens

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

Variant Calls:5
Validation:Yes
Clinical Assertions: No
Region Size:36,566

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: 386 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):37,157,693-37,194,258

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv15813	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	37,157,693	37,194,258
esv15813	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	37,446,621	37,483,186
esv15813	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	37,486,627	37,523,192

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv38152	copy number loss	NA19257	Oligo aCGH	Probe signal intensity	1,254
essv69549	copy number loss	NA12044	Oligo aCGH	Probe signal intensity	1,055
essv67224	copy number loss	NA12828	Oligo aCGH	Probe signal intensity	1,072
essv58343	copy number loss	NA19108	Oligo aCGH	Probe signal intensity	1,563
essv76016	copy number loss	NA12414	Oligo aCGH	Probe signal intensity	1,122

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv38152	Remapped	Perfect	NC_000010.11:g.(?_ 37157693)_(3718987 5_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,157,693	37,189,875
essv69549	Remapped	Perfect	NC_000010.11:g.(?_ 37162336)_(3719009 1_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,162,336	37,190,091
essv67224	Remapped	Perfect	NC_000010.11:g.(?_ 37162990)_(3718987 5_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,162,990	37,189,875
essv58343	Remapped	Perfect	NC_000010.11:g.(?_ 37166172)_(3718973 1_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,166,172	37,189,731
essv76016	Remapped	Perfect	NC_000010.11:g.(?_ 37167636)_(3719425 8_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	37,167,636	37,194,258
essv38152	Remapped	Perfect	NC_000010.10:g.(?_ 37446621)_(3747880 3_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	37,446,621	37,478,803
essv69549	Remapped	Perfect	NC_000010.10:g.(?_ 37451264)_(3747901 9_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	37,451,264	37,479,019
essv67224	Remapped	Perfect	NC_000010.10:g.(?_ 37451918)_(3747880 3_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	37,451,918	37,478,803
essv58343	Remapped	Perfect	NC_000010.10:g.(?_ 37455100)_(3747865 9_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	37,455,100	37,478,659
essv76016	Remapped	Perfect	NC_000010.10:g.(?_ 37456564)_(3748318 6_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	37,456,564	37,483,186
essv38152	Submitted genomic		NC_000010.9:g.(?_3 7486627)_(37518809 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	37,486,627	37,518,809
essv69549	Submitted genomic		NC_000010.9:g.(?_3 7491270)_(37519025 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	37,491,270	37,519,025
essv67224	Submitted genomic		NC_000010.9:g.(?_3 7491924)_(37518809 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	37,491,924	37,518,809
essv58343	Submitted genomic		NC_000010.9:g.(?_3 7495106)_(37518665 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	37,495,106	37,518,665
essv76016	Submitted genomic		NC_000010.9:g.(?_3 7496570)_(37523192 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	37,496,570	37,523,192

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv69549	2	NA12044	Oligo aCGH	Probe signal intensity	Pass
essv76016	2	NA12414	Oligo aCGH	Probe signal intensity	Pass
essv67224	2	NA12828	Oligo aCGH	Probe signal intensity	Pass
essv58343	2	NA19108	Oligo aCGH	Probe signal intensity	Pass
essv38152	2	NA19257	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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