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dbVar

Database of genomic structural variation

esv34251

Organism: Homo sapiens

Study:estd55 (Pinto et al. 2007)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:224,198

Description:Sample level SV from stringent call set
Publication(s):Pinto et al. 2007

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: 597 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):77,609,516-77,833,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv34251	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	77,609,516	77,833,713
esv34251	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	79,369,274	79,593,471
esv34251	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000010.8	Chr10	79,039,280	79,263,477

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6990410	copy number gain	NA18633	SNP array	SNP genotyping analysis	27
essv6979805	copy number gain	NA18633	SNP array	SNP genotyping analysis	27
essv6979806	copy number gain	NA18633	SNP array	SNP genotyping analysis	27
essv6986951	copy number gain	NA18633	SNP array	SNP genotyping analysis	27
essv6979807	copy number gain	NA18633	SNP array	SNP genotyping analysis	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6990410	Remapped	Perfect	NC_000010.11:g.(?_ 77609516)_(7783371 3_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	77,609,516	77,833,713
essv6979805	Remapped	Perfect	NC_000010.11:g.(?_ 77610736)_(7774663 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	77,610,736	77,746,636
essv6979806	Remapped	Perfect	NC_000010.11:g.(?_ 77610761)_(7783371 3_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	77,610,761	77,833,713
essv6986951	Remapped	Perfect	NC_000010.11:g.(?_ 77618736)_(7782413 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	77,618,736	77,824,136
essv6979807	Remapped	Perfect	NC_000010.11:g.(?_ 77618749)_(7782409 8_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	77,618,749	77,824,098
essv6990410	Remapped	Perfect	NC_000010.10:g.(?_ 79369274)_(7959347 1_?)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	79,369,274	79,593,471
essv6979805	Remapped	Perfect	NC_000010.10:g.(?_ 79370494)_(7950639 4_?)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	79,370,494	79,506,394
essv6979806	Remapped	Perfect	NC_000010.10:g.(?_ 79370519)_(7959347 1_?)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	79,370,519	79,593,471
essv6986951	Remapped	Perfect	NC_000010.10:g.(?_ 79378494)_(7958389 4_?)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	79,378,494	79,583,894
essv6979807	Remapped	Perfect	NC_000010.10:g.(?_ 79378507)_(7958385 6_?)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	79,378,507	79,583,856
essv6990410	Submitted genomic		NC_000010.8:g.(?_7 9039280)_(79263477 _?)dup	NCBI35 (hg17)		NC_000010.8	Chr10	79,039,280	79,263,477
essv6979805	Submitted genomic		NC_000010.8:g.(?_7 9040500)_(79176400 _?)dup	NCBI35 (hg17)		NC_000010.8	Chr10	79,040,500	79,176,400
essv6979806	Submitted genomic		NC_000010.8:g.(?_7 9040525)_(79263477 _?)dup	NCBI35 (hg17)		NC_000010.8	Chr10	79,040,525	79,263,477
essv6986951	Submitted genomic		NC_000010.8:g.(?_7 9048500)_(79253900 _?)dup	NCBI35 (hg17)		NC_000010.8	Chr10	79,048,500	79,253,900
essv6979807	Submitted genomic		NC_000010.8:g.(?_7 9048513)_(79253862 _?)dup	NCBI35 (hg17)		NC_000010.8	Chr10	79,048,513	79,253,862

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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