esv2661759

Organism: Homo sapiens

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

Variant Calls:17
Validation:Yes
Clinical Assertions: No
Region Size:11,548

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: 533 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):16,404,336-16,415,883

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
esv2661759	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
esv2661759	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5441214	deletion	SAMN00001121	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,383
essv5513825	deletion	SAMN00001108	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	901
essv5576332	deletion	SAMN00001192	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,334
essv5701174	deletion	SAMN00001137	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,647
essv5743984	deletion	SAMN00001193	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,179
essv5780880	deletion	SAMN00001174	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,500
essv5918537	deletion	SAMN00001132	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,614
essv5960523	deletion	SAMN00001148	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv5994748	deletion	SAMN00001131	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,611
essv6143865	deletion	SAMN00001102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,259
essv6262286	deletion	SAMN00001187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6263192	deletion	SAMN00001128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,720
essv6293129	deletion	SAMN00001175	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,327
essv6414252	deletion	SAMN00001185	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,819
essv6537129	deletion	SAMN00001129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,603
essv6545752	deletion	SAMN00001126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv6553835	deletion	SAMN00001133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,480

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5441214	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5513825	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5576332	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5701174	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5743984	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5780880	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5918537	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5960523	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5994748	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6143865	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6262286	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6263192	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6293129	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6414252	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6537129	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6545752	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv6553835	Remapped	Perfect	NC_000008.11:g.(16 404336_16404707)_( 16415513_16415883) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,404,336	16,404,707	16,415,513	16,415,883
essv5441214	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5513825	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5576332	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5701174	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5743984	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5780880	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5918537	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5960523	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv5994748	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6143865	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6262286	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6263192	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6293129	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6414252	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6537129	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6545752	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392
essv6553835	Submitted genomic		NC_000008.10:g.(16 261845_16262216)_( 16273022_16273392) del	GRCh37 (hg19)		NC_000008.10	Chr8	16,261,845	16,262,216	16,273,022	16,273,392

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6143865	7	SAMN00001102	SNP array	Probe signal intensity	Pass
essv5513825	7	SAMN00001108	SNP array	Probe signal intensity	Pass
essv5441214	7	SAMN00001121	SNP array	Probe signal intensity	Pass
essv6545752	7	SAMN00001126	SNP array	Probe signal intensity	Pass
essv6263192	7	SAMN00001128	SNP array	Probe signal intensity	Pass
essv6537129	7	SAMN00001129	SNP array	Probe signal intensity	Pass
essv5994748	7	SAMN00001131	SNP array	Probe signal intensity	Pass
essv5918537	7	SAMN00001132	SNP array	Probe signal intensity	Pass
essv6553835	7	SAMN00001133	SNP array	Probe signal intensity	Pass
essv5701174	7	SAMN00001137	SNP array	Probe signal intensity	Pass
essv5960523	7	SAMN00001148	SNP array	Probe signal intensity	Pass
essv5780880	7	SAMN00001174	SNP array	Probe signal intensity	Pass
essv6293129	7	SAMN00001175	SNP array	Probe signal intensity	Pass
essv6414252	7	SAMN00001185	SNP array	Probe signal intensity	Pass
essv6262286	7	SAMN00001187	SNP array	Probe signal intensity	Pass
essv5576332	7	SAMN00001192	SNP array	Probe signal intensity	Pass
essv5743984	7	SAMN00001193	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2661759

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