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dbVar

Database of genomic structural variation

esv994991

Organism: Homo sapiens

Study:estd180 (Pang et al. 2010)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:23,154

Publication(s):Pang et al. 2010

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

Remapped(Score: Perfect):253,618-259,746

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv994991	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	253,618	259,746
esv994991	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315952.3	Chr17\|NW_0 03315952.3	205,127	228,280
esv994991	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004070872.2	Chr17\|NW_0 04070872.2	193,616	199,744
esv994991	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	103,409	109,537

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv3564768	deletion	HuRef	Sequencing	Paired-end mapping	23,887

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv3564768	Remapped	Pass	NW_003315952.3:g.( 205127_?)_(?_22828 0)del	GRCh38.p12	Second Pass	NW_003315952.3	Chr17\|NW_0 03315952.3	205,127	228,280
essv3564768	Remapped	Perfect	NC_000017.11:g.(25 3618_?)_(?_259746) del	GRCh38.p12	First Pass	NC_000017.11	Chr17	253,618	259,746
essv3564768	Remapped	Perfect	NW_004070872.2:g.( 193616_?)_(?_19974 4)del	GRCh37.p13	First Pass	NW_004070872.2	Chr17\|NW_0 04070872.2	193,616	199,744
essv3564768	Submitted genomic		NC_000017.9:g.(103 409_?)_(?_109537)d el2970	NCBI36 (hg18)		NC_000017.9	Chr17	103,409	109,537

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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