esv2672554

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:26
Validation:Yes
Clinical Assertions: No
Region Size:17,248

Publication(s):1000 Genomes Project Consortium et al. 2012

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: 286 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):74,400,710-74,417,957

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
esv2672554	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
esv2672554	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5404237	deletion	SAMN00001152	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv5461911	deletion	SAMN00001193	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,179
essv5503818	deletion	SAMN00001183	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,354
essv5507005	deletion	SAMN00001133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,480
essv5544367	deletion	SAMN00001114	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	801
essv5549439	deletion	SAMN00001149	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv5581289	deletion	SAMN00001107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	943
essv5584775	deletion	SAMN00001189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,771
essv5591608	deletion	SAMN00001160	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,151
essv5729693	deletion	SAMN00001165	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,213
essv5783983	deletion	SAMN00001126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv5807821	deletion	SAMN00001113	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	815
essv5895111	deletion	SAMN00001119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	912
essv5922545	deletion	SAMN00001142	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,523
essv6112722	deletion	SAMN00001111	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	811
essv6124180	deletion	SAMN00001182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv6131787	deletion	SAMN00001117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,366
essv6175339	deletion	SAMN00001102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,259
essv6190981	deletion	SAMN00001143	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,643
essv6208490	deletion	SAMN00001148	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv6313016	deletion	SAMN00001168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv6314820	deletion	SAMN00001127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,924
essv6382142	deletion	SAMN00001140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625
essv6404250	deletion	SAMN00001192	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,334
essv6450014	deletion	SAMN00001190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6461862	deletion	SAMN00001128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,720

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5404237	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5461911	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5503818	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5507005	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5544367	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5549439	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5581289	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5584775	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5591608	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5729693	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5783983	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5807821	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5895111	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5922545	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6112722	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6124180	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6131787	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6175339	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6190981	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6208490	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6313016	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6314820	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6382142	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6404250	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6450014	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv6461862	Remapped	Perfect	NC_000008.11:g.(74 400710_74401081)_( 74417587_74417957) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	74,400,710	74,401,081	74,417,587	74,417,957
essv5404237	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5461911	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5503818	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5507005	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5544367	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5549439	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5581289	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5584775	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5591608	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5729693	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5783983	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5807821	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5895111	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv5922545	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6112722	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6124180	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6131787	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6175339	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6190981	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6208490	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6313016	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6314820	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6382142	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6404250	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6450014	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192
essv6461862	Submitted genomic		NC_000008.10:g.(75 312945_75313316)_( 75329822_75330192) del	GRCh37 (hg19)		NC_000008.10	Chr8	75,312,945	75,313,316	75,329,822	75,330,192

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6175339	9	SAMN00001102	Oligo aCGH	Probe signal intensity	Pass
essv5581289	9	SAMN00001107	Oligo aCGH	Probe signal intensity	Pass
essv6112722	9	SAMN00001111	Oligo aCGH	Probe signal intensity	Pass
essv5807821	9	SAMN00001113	Oligo aCGH	Probe signal intensity	Pass
essv5544367	9	SAMN00001114	Oligo aCGH	Probe signal intensity	Pass
essv6131787	9	SAMN00001117	Oligo aCGH	Probe signal intensity	Pass
essv5895111	9	SAMN00001119	Oligo aCGH	Probe signal intensity	Pass
essv5783983	9	SAMN00001126	Oligo aCGH	Probe signal intensity	Pass
essv6314820	9	SAMN00001127	Oligo aCGH	Probe signal intensity	Pass
essv6461862	9	SAMN00001128	Oligo aCGH	Probe signal intensity	Pass
essv5507005	9	SAMN00001133	Oligo aCGH	Probe signal intensity	Pass
essv6382142	9	SAMN00001140	Oligo aCGH	Probe signal intensity	Pass
essv5922545	9	SAMN00001142	Oligo aCGH	Probe signal intensity	Pass
essv6190981	9	SAMN00001143	Oligo aCGH	Probe signal intensity	Pass
essv6208490	9	SAMN00001148	Oligo aCGH	Probe signal intensity	Pass
essv5549439	9	SAMN00001149	Oligo aCGH	Probe signal intensity	Pass
essv5404237	9	SAMN00001152	Oligo aCGH	Probe signal intensity	Pass
essv5591608	9	SAMN00001160	Oligo aCGH	Probe signal intensity	Pass
essv5729693	9	SAMN00001165	Oligo aCGH	Probe signal intensity	Pass
essv6313016	9	SAMN00001168	Oligo aCGH	Probe signal intensity	Pass
essv6124180	9	SAMN00001182	Oligo aCGH	Probe signal intensity	Pass
essv5503818	9	SAMN00001183	Oligo aCGH	Probe signal intensity	Pass
essv5584775	9	SAMN00001189	Oligo aCGH	Probe signal intensity	Pass
essv6450014	9	SAMN00001190	Oligo aCGH	Probe signal intensity	Pass
essv6404250	9	SAMN00001192	Oligo aCGH	Probe signal intensity	Pass
essv5461911	9	SAMN00001193	Oligo aCGH	Probe signal intensity	Pass
essv6175339	7	SAMN00001102	SNP array	Probe signal intensity	Pass
essv5581289	7	SAMN00001107	SNP array	Probe signal intensity	Pass
essv6112722	7	SAMN00001111	SNP array	Probe signal intensity	Pass
essv5807821	7	SAMN00001113	SNP array	Probe signal intensity	Pass
essv5544367	7	SAMN00001114	SNP array	Probe signal intensity	Pass
essv6131787	7	SAMN00001117	SNP array	Probe signal intensity	Pass
essv5895111	7	SAMN00001119	SNP array	Probe signal intensity	Pass
essv5783983	7	SAMN00001126	SNP array	Probe signal intensity	Pass
essv6314820	7	SAMN00001127	SNP array	Probe signal intensity	Pass
essv6461862	7	SAMN00001128	SNP array	Probe signal intensity	Pass
essv5507005	7	SAMN00001133	SNP array	Probe signal intensity	Pass
essv6382142	7	SAMN00001140	SNP array	Probe signal intensity	Pass
essv5922545	7	SAMN00001142	SNP array	Probe signal intensity	Pass
essv6190981	7	SAMN00001143	SNP array	Probe signal intensity	Pass
essv6208490	7	SAMN00001148	SNP array	Probe signal intensity	Pass
essv5549439	7	SAMN00001149	SNP array	Probe signal intensity	Pass
essv5404237	7	SAMN00001152	SNP array	Probe signal intensity	Pass
essv5591608	7	SAMN00001160	SNP array	Probe signal intensity	Pass
essv5729693	7	SAMN00001165	SNP array	Probe signal intensity	Pass
essv6313016	7	SAMN00001168	SNP array	Probe signal intensity	Pass
essv6124180	7	SAMN00001182	SNP array	Probe signal intensity	Pass
essv5503818	7	SAMN00001183	SNP array	Probe signal intensity	Pass
essv5584775	7	SAMN00001189	SNP array	Probe signal intensity	Pass
essv6450014	7	SAMN00001190	SNP array	Probe signal intensity	Pass
essv6404250	7	SAMN00001192	SNP array	Probe signal intensity	Pass
essv5461911	7	SAMN00001193	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2672554

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant