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dbVar

Database of genomic structural variation

esv13963

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: No
Region Size:15,810

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

Remapped(Score: Perfect):26,056,565-26,072,374

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv13963	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	26,056,565	26,072,374
esv13963	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	26,345,494	26,361,303
esv13963	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	26,385,500	26,401,309

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv64839	copy number loss	NA07045	Oligo aCGH	Probe signal intensity	1,341
essv76262	copy number loss	NA12414	Oligo aCGH	Probe signal intensity	1,122
essv51091	copy number loss	NA11931	Oligo aCGH	Probe signal intensity	1,027
essv62156	copy number loss	NA12239	Oligo aCGH	Probe signal intensity	1,252

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv64839	Remapped	Perfect	NC_000010.11:g.(?_ 26056565)_(2607094 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	26,056,565	26,070,944
essv76262	Remapped	Perfect	NC_000010.11:g.(?_ 26056565)_(2607094 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	26,056,565	26,070,944
essv51091	Remapped	Perfect	NC_000010.11:g.(?_ 26061545)_(2607237 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	26,061,545	26,072,374
essv62156	Remapped	Perfect	NC_000010.11:g.(?_ 26061589)_(2607085 3_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	26,061,589	26,070,853
essv64839	Remapped	Perfect	NC_000010.10:g.(?_ 26345494)_(2635987 3_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	26,345,494	26,359,873
essv76262	Remapped	Perfect	NC_000010.10:g.(?_ 26345494)_(2635987 3_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	26,345,494	26,359,873
essv51091	Remapped	Perfect	NC_000010.10:g.(?_ 26350474)_(2636130 3_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	26,350,474	26,361,303
essv62156	Remapped	Perfect	NC_000010.10:g.(?_ 26350518)_(2635978 2_?)del	GRCh37.p13	First Pass	NC_000010.10	Chr10	26,350,518	26,359,782
essv64839	Submitted genomic		NC_000010.9:g.(?_2 6385500)_(26399879 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	26,385,500	26,399,879
essv76262	Submitted genomic		NC_000010.9:g.(?_2 6385500)_(26399879 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	26,385,500	26,399,879
essv51091	Submitted genomic		NC_000010.9:g.(?_2 6390480)_(26401309 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	26,390,480	26,401,309
essv62156	Submitted genomic		NC_000010.9:g.(?_2 6390524)_(26399788 _?)del	NCBI36 (hg18)		NC_000010.9	Chr10	26,390,524	26,399,788

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv64839	2	NA07045	Oligo aCGH	Probe signal intensity	Pass
essv51091	2	NA11931	Oligo aCGH	Probe signal intensity	Pass
essv62156	2	NA12239	Oligo aCGH	Probe signal intensity	Pass
essv76262	2	NA12414	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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