esv2657405

Organism: Homo sapiens

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

Variant Calls:14
Validation:Yes
Clinical Assertions: No
Region Size:22,948

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

Remapped(Score: Perfect):76,727,378-76,750,325

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
esv2657405	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
esv2657405	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5540475	deletion	SAMN00007729	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,132
essv5694602	deletion	SAMN00007783	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	817
essv5743062	deletion	SAMN00007782	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	817
essv5780694	deletion	SAMN00007768	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	771
essv5845674	deletion	SAMN00007786	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,118
essv5874722	deletion	SAMN00007795	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	803
essv5979478	deletion	SAMN00007767	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	862
essv6083371	deletion	SAMN00007794	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	823
essv6141596	deletion	SAMN00007752	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,122
essv6267044	deletion	SAMN00007798	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,207
essv6295252	deletion	SAMN00007723	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,255
essv6310962	deletion	SAMN00007731	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv6384330	deletion	SAMN00007717	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,210
essv6459369	deletion	SAMN00007701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,028

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5540475	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5694602	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5743062	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5780694	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5845674	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5874722	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5979478	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6083371	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6141596	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6267044	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6295252	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6310962	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6384330	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv6459369	Remapped	Perfect	NC_000006.12:g.(76 727378_76727749)_( 76749955_76750325) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	76,727,378	76,727,749	76,749,955	76,750,325
essv5540475	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv5694602	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv5743062	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv5780694	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv5845674	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv5874722	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv5979478	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6083371	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6141596	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6267044	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6295252	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6310962	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6384330	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042
essv6459369	Submitted genomic		NC_000006.11:g.(77 437095_77437466)_( 77459672_77460042) del	GRCh37 (hg19)		NC_000006.11	Chr6	77,437,095	77,437,466	77,459,672	77,460,042

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6459369	7	SAMN00007701	SNP array	Probe signal intensity	Pass
essv6384330	7	SAMN00007717	SNP array	Probe signal intensity	Pass
essv6295252	7	SAMN00007723	SNP array	Probe signal intensity	Pass
essv5540475	7	SAMN00007729	SNP array	Probe signal intensity	Pass
essv6310962	7	SAMN00007731	SNP array	Probe signal intensity	Pass
essv6141596	7	SAMN00007752	SNP array	Probe signal intensity	Pass
essv5979478	7	SAMN00007767	SNP array	Probe signal intensity	Pass
essv5780694	7	SAMN00007768	SNP array	Probe signal intensity	Pass
essv5743062	7	SAMN00007782	SNP array	Probe signal intensity	Pass
essv5694602	7	SAMN00007783	SNP array	Probe signal intensity	Pass
essv5845674	7	SAMN00007786	SNP array	Probe signal intensity	Pass
essv6083371	7	SAMN00007794	SNP array	Probe signal intensity	Pass
essv5874722	7	SAMN00007795	SNP array	Probe signal intensity	Pass
essv6267044	7	SAMN00007798	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2657405

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