esv2675305

Organism: Homo sapiens

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

Variant Calls:21
Validation:Yes
Clinical Assertions: No
Region Size:14,148

Description:High quality site
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: 147 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):27,790,257-27,804,404

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
esv2675305	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
esv2675305	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5468824	deletion	SAMN00001170	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv5498084	deletion	SAMN00001158	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,358
essv5502049	deletion	SAMN00001191	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,461
essv5589292	deletion	SAMN00001189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,771
essv5690983	deletion	SAMN00001194	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,133
essv5702328	deletion	SAMN00001164	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,515
essv5711173	deletion	SAMN00001192	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,334
essv5728199	deletion	SAMN00001122	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,437
essv5820621	deletion	SAMN00001101	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,545
essv5883379	deletion	SAMN00001166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv5889913	deletion	SAMN00001185	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,819
essv5912440	deletion	SAMN00001159	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,248
essv5977062	deletion	SAMN00001174	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,500
essv6147428	deletion	SAMN00001163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,404
essv6298517	deletion	SAMN00001119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	912
essv6310801	deletion	SAMN00001120	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,364
essv6341082	deletion	SAMN00001160	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,151
essv6394742	deletion	SAMN00001168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,626
essv6418589	deletion	SAMN00001121	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,383
essv6521657	deletion	SAMN00001173	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,274
essv6535781	deletion	SAMN00001184	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,618

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5468824	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5498084	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5502049	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5589292	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5690983	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5702328	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5711173	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5728199	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5820621	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5883379	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5889913	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5912440	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5977062	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6147428	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6298517	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6310801	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6341082	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6394742	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6418589	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6521657	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv6535781	Remapped	Perfect	NC_000022.11:g.(27 790257_27790628)_( 27804034_27804404) del	GRCh38.p12	First Pass	NC_000022.11	Chr22	27,790,257	27,790,628	27,804,034	27,804,404
essv5468824	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5498084	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5502049	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5589292	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5690983	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5702328	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5711173	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5728199	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5820621	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5883379	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5889913	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5912440	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv5977062	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6147428	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6298517	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6310801	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6341082	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6394742	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6418589	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6521657	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392
essv6535781	Submitted genomic		NC_000022.10:g.(28 186245_28186616)_( 28200022_28200392) del	GRCh37 (hg19)		NC_000022.10	Chr22	28,186,245	28,186,616	28,200,022	28,200,392

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5820621	9	SAMN00001101	Oligo aCGH	Probe signal intensity	Pass
essv6298517	9	SAMN00001119	Oligo aCGH	Probe signal intensity	Pass
essv6310801	9	SAMN00001120	Oligo aCGH	Probe signal intensity	Pass
essv6418589	9	SAMN00001121	Oligo aCGH	Probe signal intensity	Pass
essv5728199	9	SAMN00001122	Oligo aCGH	Probe signal intensity	Pass
essv5498084	9	SAMN00001158	Oligo aCGH	Probe signal intensity	Pass
essv5912440	9	SAMN00001159	Oligo aCGH	Probe signal intensity	Pass
essv6341082	9	SAMN00001160	Oligo aCGH	Probe signal intensity	Pass
essv6147428	9	SAMN00001163	Oligo aCGH	Probe signal intensity	Pass
essv5702328	9	SAMN00001164	Oligo aCGH	Probe signal intensity	Pass
essv5883379	9	SAMN00001166	Oligo aCGH	Probe signal intensity	Pass
essv6394742	9	SAMN00001168	Oligo aCGH	Probe signal intensity	Pass
essv5468824	9	SAMN00001170	Oligo aCGH	Probe signal intensity	Pass
essv6521657	9	SAMN00001173	Oligo aCGH	Probe signal intensity	Pass
essv5977062	9	SAMN00001174	Oligo aCGH	Probe signal intensity	Pass
essv6535781	9	SAMN00001184	Oligo aCGH	Probe signal intensity	Pass
essv5889913	9	SAMN00001185	Oligo aCGH	Probe signal intensity	Pass
essv5589292	9	SAMN00001189	Oligo aCGH	Probe signal intensity	Pass
essv5502049	9	SAMN00001191	Oligo aCGH	Probe signal intensity	Pass
essv5711173	9	SAMN00001192	Oligo aCGH	Probe signal intensity	Pass
essv5690983	9	SAMN00001194	Oligo aCGH	Probe signal intensity	Pass
essv5820621	7	SAMN00001101	SNP array	Probe signal intensity	Pass
essv6298517	7	SAMN00001119	SNP array	Probe signal intensity	Pass
essv6310801	7	SAMN00001120	SNP array	Probe signal intensity	Pass
essv6418589	7	SAMN00001121	SNP array	Probe signal intensity	Pass
essv5728199	7	SAMN00001122	SNP array	Probe signal intensity	Pass
essv5498084	7	SAMN00001158	SNP array	Probe signal intensity	Pass
essv5912440	7	SAMN00001159	SNP array	Probe signal intensity	Pass
essv6341082	7	SAMN00001160	SNP array	Probe signal intensity	Pass
essv6147428	7	SAMN00001163	SNP array	Probe signal intensity	Pass
essv5702328	7	SAMN00001164	SNP array	Probe signal intensity	Pass
essv5883379	7	SAMN00001166	SNP array	Probe signal intensity	Pass
essv6394742	7	SAMN00001168	SNP array	Probe signal intensity	Pass
essv5468824	7	SAMN00001170	SNP array	Probe signal intensity	Pass
essv6521657	7	SAMN00001173	SNP array	Probe signal intensity	Pass
essv5977062	7	SAMN00001174	SNP array	Probe signal intensity	Pass
essv6535781	7	SAMN00001184	SNP array	Probe signal intensity	Pass
essv5889913	7	SAMN00001185	SNP array	Probe signal intensity	Pass
essv5589292	7	SAMN00001189	SNP array	Probe signal intensity	Pass
essv5502049	7	SAMN00001191	SNP array	Probe signal intensity	Pass
essv5711173	7	SAMN00001192	SNP array	Probe signal intensity	Pass
essv5690983	7	SAMN00001194	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2675305

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