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dbVar

Database of genomic structural variation

esv2248028

Organism: Homo sapiens

Study:estd194 (Bentley et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:9,699

Publication(s):Bentley et al. 2008

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: 657 SVs from 63 studies. See in: genome view

Remapped(Score: Pass):146,068,473-146,078,171

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
esv2248028	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	146,068,473	146,068,473	146,078,171	146,078,171
esv2248028	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	145,360,023	145,360,089	145,366,472	145,366,529
esv2248028	Remapped	Good	GRCh37.p13	PATCHES	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	2,883,886	2,883,886	2,890,070	-
esv2248028	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	144,071,380	144,071,446	144,077,829	144,077,886

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv4947681	deletion	NA18507	Sequencing	Paired-end mapping	504,912

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv4947681	Remapped	Pass	NC_000001.11:g.(14 6068473_146068473) _(146078171_146078 171)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	146,068,473	146,068,473	146,078,171	146,078,171
essv4947681	Remapped	Good	NW_003871055.3:g.( 2883886_2883886)_( 2890070_?)del	GRCh37.p13	Second Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	2,883,886	2,883,886	2,890,070	-
essv4947681	Remapped	Perfect	NC_000001.10:g.(14 5360023_145360089) _(145366472_145366 529)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	145,360,023	145,360,089	145,366,472	145,366,529
essv4947681	Submitted genomic		NC_000001.9:g.(144 071380_144071446)_ (144077829_1440778 86)del	NCBI36 (hg18)		NC_000001.9	Chr1	144,071,380	144,071,446	144,077,829	144,077,886

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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