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dbVar

Database of genomic structural variation

esv3891950

Organism: Homo sapiens

Study:estd224 (Suktitipat et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:43,915

Publication(s):Suktitipat et al. 2014

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

Remapped(Score: Perfect):24,225,358-24,269,272

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv3891950	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	24,225,358	24,235,879	24,269,272	24,269,272
esv3891950	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	24,246,904	24,257,425	24,290,818	24,290,818
esv3891950	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	24,203,480	24,214,001	24,247,394	24,247,394

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
essv25789308	copy number gain	SNP array	Probe signal intensity	3
essv25789719	copy number gain	SNP array	Probe signal intensity	3
essv25792393	copy number gain	SNP array	Probe signal intensity	3
essv25792946	copy number gain	SNP array	Probe signal intensity	3
essv25784643	copy number loss	SNP array	Probe signal intensity	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv25789308	Remapped	Perfect	NC_000011.10:g.(?_ 24225358)_(2426927 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	24,225,358	24,269,272
essv25789719	Remapped	Perfect	NC_000011.10:g.(?_ 24225358)_(2426927 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	24,225,358	24,269,272
essv25792393	Remapped	Perfect	NC_000011.10:g.(?_ 24225358)_(2426927 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	24,225,358	24,269,272
essv25792946	Remapped	Perfect	NC_000011.10:g.(?_ 24225358)_(2426927 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	24,225,358	24,269,272
essv25784643	Remapped	Perfect	NC_000011.10:g.(?_ 24235879)_(2426927 2_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	24,235,879	24,269,272
essv25789308	Remapped	Perfect	NC_000011.9:g.(?_2 4246904)_(24290818 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	24,246,904	24,290,818
essv25789719	Remapped	Perfect	NC_000011.9:g.(?_2 4246904)_(24290818 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	24,246,904	24,290,818
essv25792393	Remapped	Perfect	NC_000011.9:g.(?_2 4246904)_(24290818 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	24,246,904	24,290,818
essv25792946	Remapped	Perfect	NC_000011.9:g.(?_2 4246904)_(24290818 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	24,246,904	24,290,818
essv25784643	Remapped	Perfect	NC_000011.9:g.(?_2 4257425)_(24290818 _?)del	GRCh37.p13	First Pass	NC_000011.9	Chr11	24,257,425	24,290,818
essv25789308	Submitted genomic		NC_000011.8:g.(?_2 4203480)_(24247394 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	24,203,480	24,247,394
essv25789719	Submitted genomic		NC_000011.8:g.(?_2 4203480)_(24247394 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	24,203,480	24,247,394
essv25792393	Submitted genomic		NC_000011.8:g.(?_2 4203480)_(24247394 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	24,203,480	24,247,394
essv25792946	Submitted genomic		NC_000011.8:g.(?_2 4203480)_(24247394 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	24,203,480	24,247,394
essv25784643	Submitted genomic		NC_000011.8:g.(?_2 4214001)_(24247394 _?)del	NCBI36 (hg18)		NC_000011.8	Chr11	24,214,001	24,247,394

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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