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dbVar

Database of genomic structural variation

esv3692897

Organism: Homo sapiens

Study:estd221 (Palta et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:201,603

Publication(s):Palta et al. 2015

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: 898 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):67,526,598-67,728,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3692897	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	67,526,598	67,728,200
esv3692897	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_009646200.1	Chr6\|NW_00 9646200.1	1	200,440
esv3692897	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	68,236,491	68,438,093
esv3692897	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	68,293,212	68,494,814

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv16508076	copy number loss	NA19192	SNP array	Probe signal intensity	Healthy individuals	1	13

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv16508076	Remapped	Good	NW_009646200.1:g.( ?_1)_(200440_?)del	GRCh38.p12	Second Pass	NW_009646200.1	Chr6\|NW_00 9646200.1	1	200,440
essv16508076	Remapped	Perfect	NC_000006.12:g.(?_ 67526598)_(6772820 0_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	67,526,598	67,728,200
essv16508076	Remapped	Perfect	NC_000006.11:g.(?_ 68236491)_(6843809 3_?)del	GRCh37.p13	First Pass	NC_000006.11	Chr6	68,236,491	68,438,093
essv16508076	Submitted genomic		NC_000006.10:g.(?_ 68293212)_(6849481 4_?)del	NCBI36 (hg18)		NC_000006.10	Chr6	68,293,212	68,494,814

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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