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dbVar

Database of genomic structural variation

esv3313018

Organism: Homo sapiens

Study:estd59 (1000 Genomes Consortium Pilot Project)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:6
Validation:Yes
Clinical Assertions: No
Region Size:9,582

Publication(s):1000 Genomes Project Consortium 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: 173 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):76,627,465-76,637,289

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3313018	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
esv3313018	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
esv3313018	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv8220013	deletion	SAMN00001684	Sequencing	Paired-end mapping	9,989
essv8220014	deletion	SAMN00001631	Sequencing	Paired-end mapping	9,100
essv8220015	deletion	SAMN00001666	Sequencing	Paired-end mapping	11,359
essv8220016	deletion	SAMN00001628	Sequencing	Paired-end mapping	11,296
essv8220017	deletion	SAMN00001627	Sequencing	Paired-end mapping	11,565
essv8220018	deletion	SAMN00001632	Sequencing	Paired-end mapping	10,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv8220013	Remapped	Perfect	NC_000016.10:g.(76 627465_76627675)_( 76637069_76637289) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
essv8220014	Remapped	Perfect	NC_000016.10:g.(76 627465_76627675)_( 76637069_76637289) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
essv8220015	Remapped	Perfect	NC_000016.10:g.(76 627465_76627675)_( 76637069_76637289) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
essv8220016	Remapped	Perfect	NC_000016.10:g.(76 627465_76627675)_( 76637069_76637289) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
essv8220017	Remapped	Perfect	NC_000016.10:g.(76 627465_76627675)_( 76637069_76637289) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
essv8220018	Remapped	Perfect	NC_000016.10:g.(76 627465_76627675)_( 76637069_76637289) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	76,627,601 (-136, +74)	76,637,182 (-113, +107)
essv8220013	Remapped	Perfect	NC_000016.9:g.(766 61362_76661572)_(7 6670966_76671186)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
essv8220014	Remapped	Perfect	NC_000016.9:g.(766 61362_76661572)_(7 6670966_76671186)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
essv8220015	Remapped	Perfect	NC_000016.9:g.(766 61362_76661572)_(7 6670966_76671186)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
essv8220016	Remapped	Perfect	NC_000016.9:g.(766 61362_76661572)_(7 6670966_76671186)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
essv8220017	Remapped	Perfect	NC_000016.9:g.(766 61362_76661572)_(7 6670966_76671186)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
essv8220018	Remapped	Perfect	NC_000016.9:g.(766 61362_76661572)_(7 6670966_76671186)d el	GRCh37.p13	First Pass	NC_000016.9	Chr16	76,661,498 (-136, +74)	76,671,079 (-113, +107)
essv8220013	Submitted genomic		NC_000016.8:g.(752 18863_75219073)_(7 5228467_75228687)d el	NCBI36 (hg18)		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)
essv8220014	Submitted genomic		NC_000016.8:g.(752 18863_75219073)_(7 5228467_75228687)d el	NCBI36 (hg18)		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)
essv8220015	Submitted genomic		NC_000016.8:g.(752 18863_75219073)_(7 5228467_75228687)d el	NCBI36 (hg18)		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)
essv8220016	Submitted genomic		NC_000016.8:g.(752 18863_75219073)_(7 5228467_75228687)d el	NCBI36 (hg18)		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)
essv8220017	Submitted genomic		NC_000016.8:g.(752 18863_75219073)_(7 5228467_75228687)d el	NCBI36 (hg18)		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)
essv8220018	Submitted genomic		NC_000016.8:g.(752 18863_75219073)_(7 5228467_75228687)d el	NCBI36 (hg18)		NC_000016.8	Chr16	75,218,999 (-136, +74)	75,228,580 (-113, +107)

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv8220017	36	SAMN00001627	Digital array	Other	Pass
essv8220017	38	SAMN00001627	Digital array	Other	Pass
essv8220016	36	SAMN00001628	Digital array	Other	Pass
essv8220016	38	SAMN00001628	Digital array	Other	Pass
essv8220014	36	SAMN00001631	Digital array	Other	Pass
essv8220014	38	SAMN00001631	Digital array	Other	Pass
essv8220018	36	SAMN00001632	Digital array	Other	Pass
essv8220018	38	SAMN00001632	Digital array	Other	Pass
essv8220015	36	SAMN00001666	Digital array	Other	Pass
essv8220015	38	SAMN00001666	Digital array	Other	Pass
essv8220013	36	SAMN00001684	Digital array	Other	Pass
essv8220013	38	SAMN00001684	Digital array	Other	Pass
essv8220017	37	SAMN00001627	Sequencing	de novo sequence assembly	Pass
essv8220016	37	SAMN00001628	Sequencing	de novo sequence assembly	Pass
essv8220014	37	SAMN00001631	Sequencing	de novo sequence assembly	Pass
essv8220018	37	SAMN00001632	Sequencing	de novo sequence assembly	Pass
essv8220015	37	SAMN00001666	Sequencing	de novo sequence assembly	Pass
essv8220013	37	SAMN00001684	Sequencing	de novo sequence assembly	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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