esv2668294

Organism: Homo sapiens

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

Variant Calls:22
Validation:Yes
Clinical Assertions: No
Region Size:12,872

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: 161 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):12,053,911-12,066,782

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2668294	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
esv2668294	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	12,164,726	12,177,597

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5400999	deletion	SAMN00001596	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,369
essv5521958	deletion	SAMN00006438	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,799
essv5606982	deletion	SAMN00006561	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,714
essv5626864	deletion	SAMN00000460	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,651
essv5698278	deletion	SAMN00006511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,159
essv5786781	deletion	SAMN00001615	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,364
essv5808908	deletion	SAMN00000532	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	998
essv5897994	deletion	SAMN00006513	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,611
essv6003593	deletion	SAMN00000514	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,014
essv6059878	deletion	SAMN00006574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,770
essv6180588	deletion	SAMN00000507	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,058
essv6184277	deletion	SAMN00004695	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,646
essv6207248	deletion	SAMN00001035	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,325
essv6330599	deletion	SAMN00006489	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,122
essv6332135	deletion	SAMN00001037	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,232
essv6361421	deletion	SAMN00000422	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,640
essv6399365	deletion	SAMN00001618	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,316
essv6430084	deletion	SAMN00006480	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,600
essv6432057	deletion	SAMN00006552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,667
essv6479045	deletion	SAMN00006558	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,756
essv6527854	deletion	SAMN00006547	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684
essv6582386	deletion	SAMN00006486	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,453

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5400999	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5521958	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5606982	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5626864	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5698278	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5786781	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5808908	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5897994	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6003593	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6059878	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6180588	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6184277	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6207248	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6330599	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6332135	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6361421	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6399365	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6430084	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6432057	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6479045	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6527854	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv6582386	Remapped	Perfect	NC_000019.10:g.120 53911_12066782delG	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,053,911	12,066,782
essv5400999	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5521958	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5606982	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5626864	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5698278	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5786781	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5808908	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv5897994	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6003593	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6059878	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6180588	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6184277	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6207248	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6330599	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6332135	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6361421	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6399365	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6430084	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6432057	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6479045	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6527854	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597
essv6582386	Submitted genomic		NC_000019.9:g.1216 4726_12177597delG	GRCh37 (hg19)		NC_000019.9	Chr19	12,164,726	12,177,597

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6361421	9	SAMN00000422	Oligo aCGH	Probe signal intensity	Pass
essv5626864	9	SAMN00000460	Oligo aCGH	Probe signal intensity	Pass
essv6180588	9	SAMN00000507	Oligo aCGH	Probe signal intensity	Pass
essv6003593	9	SAMN00000514	Oligo aCGH	Probe signal intensity	Pass
essv5808908	9	SAMN00000532	Oligo aCGH	Probe signal intensity	Pass
essv6207248	9	SAMN00001035	Oligo aCGH	Probe signal intensity	Pass
essv6332135	9	SAMN00001037	Oligo aCGH	Probe signal intensity	Pass
essv5400999	9	SAMN00001596	Oligo aCGH	Probe signal intensity	Pass
essv5786781	9	SAMN00001615	Oligo aCGH	Probe signal intensity	Pass
essv6399365	9	SAMN00001618	Oligo aCGH	Probe signal intensity	Pass
essv6184277	9	SAMN00004695	Oligo aCGH	Probe signal intensity	Pass
essv5521958	9	SAMN00006438	Oligo aCGH	Probe signal intensity	Pass
essv6430084	9	SAMN00006480	Oligo aCGH	Probe signal intensity	Pass
essv6582386	9	SAMN00006486	Oligo aCGH	Probe signal intensity	Pass
essv6330599	9	SAMN00006489	Oligo aCGH	Probe signal intensity	Pass
essv5698278	9	SAMN00006511	Oligo aCGH	Probe signal intensity	Pass
essv5897994	9	SAMN00006513	Oligo aCGH	Probe signal intensity	Pass
essv6527854	9	SAMN00006547	Oligo aCGH	Probe signal intensity	Pass
essv6432057	9	SAMN00006552	Oligo aCGH	Probe signal intensity	Pass
essv6479045	9	SAMN00006558	Oligo aCGH	Probe signal intensity	Pass
essv5606982	9	SAMN00006561	Oligo aCGH	Probe signal intensity	Pass
essv6059878	9	SAMN00006574	Oligo aCGH	Probe signal intensity	Pass
essv6361421	7	SAMN00000422	SNP array	Probe signal intensity	Pass
essv5626864	7	SAMN00000460	SNP array	Probe signal intensity	Pass
essv6180588	7	SAMN00000507	SNP array	Probe signal intensity	Pass
essv6003593	7	SAMN00000514	SNP array	Probe signal intensity	Pass
essv5808908	7	SAMN00000532	SNP array	Probe signal intensity	Pass
essv6207248	7	SAMN00001035	SNP array	Probe signal intensity	Pass
essv6332135	7	SAMN00001037	SNP array	Probe signal intensity	Pass
essv5400999	7	SAMN00001596	SNP array	Probe signal intensity	Pass
essv5786781	7	SAMN00001615	SNP array	Probe signal intensity	Pass
essv6399365	7	SAMN00001618	SNP array	Probe signal intensity	Pass
essv6184277	7	SAMN00004695	SNP array	Probe signal intensity	Pass
essv5521958	7	SAMN00006438	SNP array	Probe signal intensity	Pass
essv6430084	7	SAMN00006480	SNP array	Probe signal intensity	Pass
essv6582386	7	SAMN00006486	SNP array	Probe signal intensity	Pass
essv6330599	7	SAMN00006489	SNP array	Probe signal intensity	Pass
essv5698278	7	SAMN00006511	SNP array	Probe signal intensity	Pass
essv5897994	7	SAMN00006513	SNP array	Probe signal intensity	Pass
essv6527854	7	SAMN00006547	SNP array	Probe signal intensity	Pass
essv6432057	7	SAMN00006552	SNP array	Probe signal intensity	Pass
essv6479045	7	SAMN00006558	SNP array	Probe signal intensity	Pass
essv5606982	7	SAMN00006561	SNP array	Probe signal intensity	Pass
essv6059878	7	SAMN00006574	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2668294

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