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dbVar

Database of genomic structural variation

esv1814667

Organism: Homo sapiens

Study:estd188 (Pinto et al. 2011)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,177,558

Publication(s):Pinto et al. 2011

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: 13962 SVs from 123 studies. See in: genome view

Remapped(Score: Pass):31,768,151-34,945,708

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
esv1814667	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	31,768,151	31,768,151	34,945,708	34,945,708
esv1814667	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	31,779,472	31,779,472	34,180,079	34,180,079
esv1814667	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	-	103,116	1,641,917	-
esv1814667	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	31,686,973	31,688,826	33,855,907	34,037,580

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4377828	copy number gain	NA18517	SNP array	SNP genotyping analysis	11,001

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4377828	Remapped	Pass	NC_000016.10:g.(31 768151_31768151)_( 34945708_34945708) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	31,768,151	31,768,151	34,945,708	34,945,708
essv4377828	Remapped	Pass	NW_003871055.3:g.( ?_103116)_(1641917 _?)dup	GRCh37.p13	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	-	103,116	1,641,917	-
essv4377828	Remapped	Good	NC_000016.9:g.(317 79472_31779472)_(3 4180079_34180079)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	31,779,472	31,779,472	34,180,079	34,180,079
essv4377828	Submitted genomic		NC_000016.8:g.(316 86973_31688826)_(3 3855907_34037580)d up	NCBI36 (hg18)		NC_000016.8	Chr16	31,686,973	31,688,826	33,855,907	34,037,580

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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