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dbVar

Database of genomic structural variation

esv3891575

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:238,834

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: 3472 SVs from 102 studies. See in: genome view

Remapped(Score: Perfect):11,948,271-12,187,104

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
esv3891575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	11,948,271	11,951,222	12,185,037	12,187,104
esv3891575	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	11,948,271	11,951,222	12,185,037	12,187,104
esv3891575	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	11,938,271	11,941,222	12,175,037	12,177,104

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
essv25798363	copy number loss	SNP array	Probe signal intensity	1
essv25778934	copy number loss	SNP array	Probe signal intensity	1
essv25779290	copy number loss	SNP array	Probe signal intensity	1
essv25784897	copy number loss	SNP array	Probe signal intensity	1
essv25784987	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
essv25798363	Remapped	Perfect	NC_000009.12:g.(?_ 11948271)_(1218503 7_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,948,271	12,185,037
essv25778934	Remapped	Perfect	NC_000009.12:g.(?_ 11948271)_(1218710 4_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,948,271	12,187,104
essv25779290	Remapped	Perfect	NC_000009.12:g.(?_ 11948271)_(1218710 4_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,948,271	12,187,104
essv25784897	Remapped	Perfect	NC_000009.12:g.(?_ 11951222)_(1218710 4_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,951,222	12,187,104
essv25784987	Remapped	Perfect	NC_000009.12:g.(?_ 11951983)_(1218710 4_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,951,983	12,187,104
essv25798363	Remapped	Perfect	NC_000009.11:g.(?_ 11948271)_(1218503 7_?)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	11,948,271	12,185,037
essv25778934	Remapped	Perfect	NC_000009.11:g.(?_ 11948271)_(1218710 4_?)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	11,948,271	12,187,104
essv25779290	Remapped	Perfect	NC_000009.11:g.(?_ 11948271)_(1218710 4_?)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	11,948,271	12,187,104
essv25784897	Remapped	Perfect	NC_000009.11:g.(?_ 11951222)_(1218710 4_?)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	11,951,222	12,187,104
essv25784987	Remapped	Perfect	NC_000009.11:g.(?_ 11951983)_(1218710 4_?)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	11,951,983	12,187,104
essv25798363	Submitted genomic		NC_000009.10:g.(?_ 11938271)_(1217503 7_?)del	NCBI36 (hg18)		NC_000009.10	Chr9	11,938,271	12,175,037
essv25778934	Submitted genomic		NC_000009.10:g.(?_ 11938271)_(1217710 4_?)del	NCBI36 (hg18)		NC_000009.10	Chr9	11,938,271	12,177,104
essv25779290	Submitted genomic		NC_000009.10:g.(?_ 11938271)_(1217710 4_?)del	NCBI36 (hg18)		NC_000009.10	Chr9	11,938,271	12,177,104
essv25784897	Submitted genomic		NC_000009.10:g.(?_ 11941222)_(1217710 4_?)del	NCBI36 (hg18)		NC_000009.10	Chr9	11,941,222	12,177,104
essv25784987	Submitted genomic		NC_000009.10:g.(?_ 11941983)_(1217710 4_?)del	NCBI36 (hg18)		NC_000009.10	Chr9	11,941,983	12,177,104

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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