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dbVar

Database of genomic structural variation

esv3584849

Organism: Homo sapiens

Study:estd213 (Mokhtar 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:66,121

Publication(s):Mokhtar 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: 2599 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):78,259,348-78,325,468

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3584849	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	78,259,348	78,325,468
esv3584849	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	78,969,065	79,035,185
esv3584849	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	79,025,784	79,091,904

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9838714	copy number loss	OA064	SNP array	Probe signal intensity	28
essv9838715	copy number loss	OA013	SNP array	Probe signal intensity	31
essv9838716	copy number loss	KSM006	SNP array	Probe signal intensity	44
essv9838717	copy number loss	KSM003	SNP array	Probe signal intensity	52
essv9838718	copy number loss	2RB	SNP array	Probe signal intensity	55

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv9838714	Remapped	Perfect	NC_000006.12:g.(?_ 78259348)_(7832546 8_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,348	78,325,468
essv9838715	Remapped	Perfect	NC_000006.12:g.(?_ 78259348)_(7832546 8_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,348	78,325,468
essv9838716	Remapped	Perfect	NC_000006.12:g.(?_ 78259348)_(7832546 8_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,348	78,325,468
essv9838717	Remapped	Perfect	NC_000006.12:g.(?_ 78259348)_(7832546 8_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,348	78,325,468
essv9838718	Remapped	Perfect	NC_000006.12:g.(?_ 78259348)_(7832546 8_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	78,259,348	78,325,468
essv9838714	Remapped	Perfect	NC_000006.11:g.(?_ 78969065)_(7903518 5_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,969,065	79,035,185
essv9838715	Remapped	Perfect	NC_000006.11:g.(?_ 78969065)_(7903518 5_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,969,065	79,035,185
essv9838716	Remapped	Perfect	NC_000006.11:g.(?_ 78969065)_(7903518 5_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,969,065	79,035,185
essv9838717	Remapped	Perfect	NC_000006.11:g.(?_ 78969065)_(7903518 5_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,969,065	79,035,185
essv9838718	Remapped	Perfect	NC_000006.11:g.(?_ 78969065)_(7903518 5_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	78,969,065	79,035,185
essv9838714	Submitted genomic		NC_000006.10:g.(?_ 79025784)_(7909190 4_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,025,784	79,091,904
essv9838715	Submitted genomic		NC_000006.10:g.(?_ 79025784)_(7909190 4_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,025,784	79,091,904
essv9838716	Submitted genomic		NC_000006.10:g.(?_ 79025784)_(7909190 4_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,025,784	79,091,904
essv9838717	Submitted genomic		NC_000006.10:g.(?_ 79025784)_(7909190 4_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,025,784	79,091,904
essv9838718	Submitted genomic		NC_000006.10:g.(?_ 79025784)_(7909190 4_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	79,025,784	79,091,904

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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