esv2665552

Organism: Homo sapiens

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

Variant Calls:10
Validation:Yes
Clinical Assertions: No
Region Size:11,294

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: 306 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):86,062-97,355

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2665552	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	86,062	97,355
esv2665552	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	132,002	143,295

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5488477	deletion	SAMN00001256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	800
essv5516268	deletion	SAMN00009128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,219
essv5670562	deletion	SAMN00006400	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,503
essv5716953	deletion	SAMN00006535	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv5863948	deletion	SAMN00001314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	746
essv5878116	deletion	SAMN00006374	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	910
essv6107804	deletion	SAMN00000391	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,028
essv6288321	deletion	SAMN00006394	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,648
essv6368786	deletion	SAMN00800835	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,216
essv6590934	deletion	SAMN00001290	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	864

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5488477	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv5516268	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv5670562	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv5716953	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv5863948	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv5878116	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv6107804	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv6288321	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv6368786	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv6590934	Remapped	Perfect	NC_000010.11:g.860 62_97355delA	GRCh38.p12	First Pass	NC_000010.11	Chr10	86,062	97,355
essv5488477	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv5516268	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv5670562	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv5716953	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv5863948	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv5878116	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv6107804	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv6288321	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv6368786	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295
essv6590934	Submitted genomic		NC_000010.10:g.132 002_143295delA	GRCh37 (hg19)		NC_000010.10	Chr10	132,002	143,295

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6107804	7	SAMN00000391	SNP array	Probe signal intensity	Pass
essv5488477	7	SAMN00001256	SNP array	Probe signal intensity	Pass
essv6590934	7	SAMN00001290	SNP array	Probe signal intensity	Pass
essv5863948	7	SAMN00001314	SNP array	Probe signal intensity	Pass
essv5878116	7	SAMN00006374	SNP array	Probe signal intensity	Pass
essv6288321	7	SAMN00006394	SNP array	Probe signal intensity	Pass
essv5670562	7	SAMN00006400	SNP array	Probe signal intensity	Pass
essv5716953	7	SAMN00006535	SNP array	Probe signal intensity	Pass
essv5516268	7	SAMN00009128	SNP array	Probe signal intensity	Pass
essv6368786	7	SAMN00800835	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2665552

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