esv2421414

Organism: Homo sapiens

Study:estd195 (Altshuler et al. 2010)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:37
Validation:Not tested
Clinical Assertions: No
Region Size:17,888

Publication(s):International HapMap 3 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: 1004 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):590,735-608,622

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2421414	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	590,735	608,622
esv2421414	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	590,735	608,622
esv2421414	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	580,735	598,622

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv5021712	deletion	NA18875	SNP array	SNP genotyping analysis	1	147
essv5023690	deletion	NA19397	SNP array	SNP genotyping analysis	1	136
essv5028948	deletion	NA19149	SNP array	SNP genotyping analysis	1	143
essv5030305	deletion	NA20297	SNP array	SNP genotyping analysis	1	130
essv5032320	deletion	NA18863	SNP array	SNP genotyping analysis	1	149
essv5037701	deletion	NA20288	SNP array	SNP genotyping analysis	1	144
essv5037719	deletion	NA19198	SNP array	SNP genotyping analysis	1	146
essv5039687	deletion	NA20360	SNP array	SNP genotyping analysis	1	127
essv5046278	deletion	NA19235	SNP array	SNP genotyping analysis	1	146
essv5046827	deletion	NA21600	SNP array	SNP genotyping analysis	1	131
essv5052282	deletion	NA19159	SNP array	SNP genotyping analysis	1	167
essv5059184	deletion	NA19202	SNP array	SNP genotyping analysis	1	156
essv5064924	deletion	NA19108	SNP array	SNP genotyping analysis	1	154
essv5068245	deletion	NA19248	SNP array	SNP genotyping analysis	1	145
essv5068773	deletion	NA21597	SNP array	SNP genotyping analysis	1	129
essv5070410	deletion	NA18873	SNP array	SNP genotyping analysis	1	138
essv5074808	deletion	NA19102	SNP array	SNP genotyping analysis	1	141
essv5080835	deletion	NA20347	SNP array	SNP genotyping analysis	1	141
essv5086368	deletion	NA19714	SNP array	SNP genotyping analysis	1	118
essv5091955	deletion	NA19201	SNP array	SNP genotyping analysis	1	153
essv5107940	deletion	NA20287	SNP array	SNP genotyping analysis	1	146
essv5113356	deletion	NA19211	SNP array	SNP genotyping analysis	1	143
essv5124482	deletion	NA21631	SNP array	SNP genotyping analysis	1	154
essv5124587	deletion	NA19428	SNP array	SNP genotyping analysis	1	145
essv5124865	deletion	NA19249	SNP array	SNP genotyping analysis	1	152
essv5126985	deletion	NA19915	SNP array	SNP genotyping analysis	1	140
essv5127509	deletion	NA19319	SNP array	SNP genotyping analysis	1	129
essv5127650	deletion	NA21601	SNP array	SNP genotyping analysis	1	122
essv5134906	deletion	NA19317	SNP array	SNP genotyping analysis	1	145
essv5146842	deletion	NA20359	SNP array	SNP genotyping analysis	1	139
essv5148571	deletion	NA19210	SNP array	SNP genotyping analysis	1	149
essv5150159	deletion	NA19377	SNP array	SNP genotyping analysis	1	125
essv5152775	deletion	NA18933	SNP array	SNP genotyping analysis	1	150
essv5153121	deletion	NA19109	SNP array	SNP genotyping analysis	1	168
essv5153564	deletion	NA18862	SNP array	SNP genotyping analysis	0	154
essv5160228	deletion	NA19396	SNP array	SNP genotyping analysis	1	139
essv5160783	deletion	NA21510	SNP array	SNP genotyping analysis	1	137

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv5021712	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5023690	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5028948	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5030305	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5032320	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5037701	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5037719	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5039687	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5046278	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5046827	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5052282	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5059184	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5064924	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5068245	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5068773	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5070410	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5074808	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5080835	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5086368	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5091955	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5107940	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5113356	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5124482	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5124587	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5124865	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5126985	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5127509	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5127650	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5134906	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5146842	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5148571	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5150159	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5152775	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5153121	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5153564	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5160228	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5160783	Remapped	Perfect	NC_000009.12:g.(?_ 590735)_(608622_?) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	590,735	608,622
essv5021712	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5023690	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5028948	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5030305	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5032320	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5037701	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5037719	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5039687	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5046278	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5046827	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5052282	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5059184	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5064924	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5068245	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5068773	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5070410	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5074808	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5080835	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5086368	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5091955	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5107940	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5113356	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5124482	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5124587	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5124865	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5126985	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5127509	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5127650	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5134906	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5146842	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5148571	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5150159	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5152775	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5153121	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5153564	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5160228	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5160783	Remapped	Perfect	NC_000009.11:g.(?_ 590735)_(608622_?) del	GRCh37.p13	First Pass	NC_000009.11	Chr9	590,735	608,622
essv5021712	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5023690	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5028948	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5030305	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5032320	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5037701	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5037719	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5039687	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5046278	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5046827	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5052282	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5059184	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5064924	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5068245	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5068773	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5070410	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5074808	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5080835	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5086368	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5091955	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5107940	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5113356	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5124482	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5124587	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5124865	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622
essv5126985	Submitted genomic		NC_000009.10:g.(?_ 580735)_(598622_?) del	NCBI36 (hg18)		NC_000009.10	Chr9	580,735	598,622

Showing 100 of 111

dbVar

Database of genomic structural variation

esv2421414

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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