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dbVar

Database of genomic structural variation

esv2760188

Organism: Homo sapiens

Study:estd203 (Vogler et al. 2010)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:45,739

Publication(s):Vogler et al. 2010

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: 776 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):16,018,169-16,063,907

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Outer Stop
esv2760188	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	16,018,169	16,063,907
esv2760188	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	16,344,664	16,390,402
esv2760188	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	16,217,251	16,262,989

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6996300	copy number gain	SW_1282	SNP array	SNP genotyping analysis	48
essv6996411	copy number gain	SW_1480	SNP array	SNP genotyping analysis	37
essv6996522	copy number gain	SW_0061	SNP array	SNP genotyping analysis	38
essv6996633	copy number loss	SW_0786	SNP array	SNP genotyping analysis	48
essv6996744	copy number gain	SW_0086	SNP array	SNP genotyping analysis	50

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6996300	Remapped	Perfect	NC_000001.11:g.(?_ 16018169)_(1606390 7_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,018,169	16,063,907
essv6996411	Remapped	Perfect	NC_000001.11:g.(?_ 16018760)_(1605292 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,018,760	16,052,921
essv6996522	Remapped	Perfect	NC_000001.11:g.(?_ 16037445)_(1605292 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,037,445	16,052,921
essv6996633	Remapped	Perfect	NC_000001.11:g.(?_ 16037445)_(1605292 1_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,037,445	16,052,921
essv6996744	Remapped	Perfect	NC_000001.11:g.(?_ 16041638)_(1605292 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	16,041,638	16,052,921
essv6996300	Remapped	Perfect	NC_000001.10:g.(?_ 16344664)_(1639040 2_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	16,344,664	16,390,402
essv6996411	Remapped	Perfect	NC_000001.10:g.(?_ 16345255)_(1637941 6_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	16,345,255	16,379,416
essv6996522	Remapped	Perfect	NC_000001.10:g.(?_ 16363940)_(1637941 6_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	16,363,940	16,379,416
essv6996633	Remapped	Perfect	NC_000001.10:g.(?_ 16363940)_(1637941 6_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	16,363,940	16,379,416
essv6996744	Remapped	Perfect	NC_000001.10:g.(?_ 16368133)_(1637941 6_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	16,368,133	16,379,416
essv6996300	Submitted genomic		NC_000001.9:g.(?_1 6217251)_(16262989 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	16,217,251	16,262,989
essv6996411	Submitted genomic		NC_000001.9:g.(?_1 6217842)_(16252003 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	16,217,842	16,252,003
essv6996522	Submitted genomic		NC_000001.9:g.(?_1 6236527)_(16252003 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	16,236,527	16,252,003
essv6996633	Submitted genomic		NC_000001.9:g.(?_1 6236527)_(16252003 _?)del	NCBI36 (hg18)		NC_000001.9	Chr1	16,236,527	16,252,003
essv6996744	Submitted genomic		NC_000001.9:g.(?_1 6240720)_(16252003 _?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	16,240,720	16,252,003

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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