esv3854414

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:23
Validation:Not tested
Clinical Assertions: No
Region Size:9,610

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 256 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):78,265,929-78,275,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3854414	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
esv3854414	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21236370	deletion	HG00263	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,070
essv21236371	deletion	HG01251	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,726
essv21236372	deletion	HG01468	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,777
essv21236373	deletion	HG01631	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,664
essv21236374	deletion	HG01756	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,256
essv21236375	deletion	HG01789	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,727
essv21236376	deletion	HG01973	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,038
essv21236377	deletion	HG02734	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,351
essv21236378	deletion	HG03680	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,578
essv21236379	deletion	HG03950	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605
essv21236380	deletion	HG03965	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,791
essv21236381	deletion	HG03989	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,846
essv21236382	deletion	HG04025	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135
essv21236383	deletion	HG04107	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,794
essv21236384	deletion	NA07037	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,439
essv21236385	deletion	NA11881	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,665
essv21236386	deletion	NA12043	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,673
essv21236387	deletion	NA12272	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,285
essv21236388	deletion	NA12399	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,513
essv21236389	deletion	NA12718	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,262
essv21236390	deletion	NA20800	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,274
essv21236391	deletion	NA20881	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,313
essv21236392	deletion	NA20905	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,596

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21236370	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236371	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236372	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236373	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236374	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236375	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236376	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236377	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236378	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236379	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236380	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236381	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236382	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236383	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236384	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236385	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236386	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236387	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236388	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236389	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236390	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236391	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236392	Remapped	Perfect	NC_000008.11:g.(78 265929_78265934)_( 78275538_78275543) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	78,265,931 (-2, +3)	78,275,540 (-2, +3)
essv21236370	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236371	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236372	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236373	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236374	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236375	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236376	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236377	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236378	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236379	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236380	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236381	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236382	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236383	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236384	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236385	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236386	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236387	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236388	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236389	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236390	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236391	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)
essv21236392	Submitted genomic		NC_000008.10:g.(79 178164_79178169)_( 79187773_79187778) del	GRCh37 (hg19)		NC_000008.10	Chr8	79,178,166 (-2, +3)	79,187,775 (-2, +3)

dbVar

Database of genomic structural variation

esv3854414

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.