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dbVar

Database of genomic structural variation

esv3584856

Organism: Homo sapiens

Study:estd213 (Mokhtar et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:36,474

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: 355 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):160,611,057-160,647,530

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3584856	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	160,611,057	160,647,530
esv3584856	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	161,032,089	161,068,562
esv3584856	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	160,952,079	160,988,552

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv9838590	copy number loss	KSM008	SNP array	Probe signal intensity	54
essv9838591	copy number loss	KSF024	SNP array	Probe signal intensity	42

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv9838590	Remapped	Perfect	NC_000006.12:g.(?_ 160611057)_(160647 530_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,611,057	160,647,530
essv9838591	Remapped	Perfect	NC_000006.12:g.(?_ 160611057)_(160647 530_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,611,057	160,647,530
essv9838590	Remapped	Perfect	NC_000006.11:g.(?_ 161032089)_(161068 562_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,032,089	161,068,562
essv9838591	Remapped	Perfect	NC_000006.11:g.(?_ 161032089)_(161068 562_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,032,089	161,068,562
essv9838590	Submitted genomic		NC_000006.10:g.(?_ 160952079)_(160988 552_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	160,952,079	160,988,552
essv9838591	Submitted genomic		NC_000006.10:g.(?_ 160952079)_(160988 552_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	160,952,079	160,988,552

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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