esv3609081

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:22
Validation:Not tested
Clinical Assertions: No
Region Size:20,793

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 348 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):55,961,119-55,981,925

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3609081	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
esv3609081	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12363371	deletion	SAMN00004631	Sequencing	Read depth and paired-end mapping	Heterozygous	2,737
essv12363372	deletion	SAMN00006343	Sequencing	Read depth and paired-end mapping	Heterozygous	2,433
essv12363373	deletion	SAMN00004647	Sequencing	Read depth and paired-end mapping	Heterozygous	2,660
essv12363374	deletion	SAMN00004648	Sequencing	Read depth and paired-end mapping	Homozygous	2,529
essv12363375	deletion	SAMN00006392	Sequencing	Read depth and paired-end mapping	Heterozygous	2,869
essv12363376	deletion	SAMN00006426	Sequencing	Read depth and paired-end mapping	Heterozygous	2,779
essv12363377	deletion	SAMN01091082	Sequencing	Read depth and paired-end mapping	Heterozygous	2,251
essv12363378	deletion	SAMN00009178	Sequencing	Read depth and paired-end mapping	Heterozygous	2,703
essv12363379	deletion	SAMN00009192	Sequencing	Read depth and paired-end mapping	Heterozygous	2,676
essv12363380	deletion	SAMN01091093	Sequencing	Read depth and paired-end mapping	Heterozygous	2,301
essv12363381	deletion	SAMN00014420	Sequencing	Read depth and paired-end mapping	Heterozygous	2,506
essv12363382	deletion	SAMN01091155	Sequencing	Read depth and paired-end mapping	Heterozygous	2,781
essv12363383	deletion	SAMN00000383	Sequencing	Read depth and paired-end mapping	Heterozygous	2,898
essv12363384	deletion	SAMN00800969	Sequencing	Read depth and paired-end mapping	Heterozygous	2,738
essv12363385	deletion	SAMN00801420	Sequencing	Read depth and paired-end mapping	Heterozygous	2,235
essv12363386	deletion	SAMN00000397	Sequencing	Read depth and paired-end mapping	Heterozygous	2,889
essv12363387	deletion	SAMN00000411	Sequencing	Read depth and paired-end mapping	Heterozygous	2,627
essv12363388	deletion	SAMN00801888	Sequencing	Read depth and paired-end mapping	Heterozygous	2,707
essv12363389	deletion	SAMN00007765	Sequencing	Read depth and paired-end mapping	Heterozygous	2,397
essv12363390	deletion	SAMN00004477	Sequencing	Read depth and paired-end mapping	Heterozygous	2,783
essv12363391	deletion	SAMN00001283	Sequencing	Read depth and paired-end mapping	Heterozygous	2,713
essv12363392	deletion	SAMN00001315	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12363371	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363372	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363373	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363374	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363375	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363376	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363377	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363378	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363379	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363380	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363381	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363382	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363383	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363384	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363385	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363386	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363387	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363388	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363389	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363390	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363391	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363392	Remapped	Perfect	NC_000006.12:g.(55 961119_55961133)_( 55981911_55981925) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,961,126 (-7, +7)	55,981,918 (-7, +7)
essv12363371	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363372	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363373	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363374	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363375	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363376	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363377	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363378	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363379	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363380	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363381	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363382	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363383	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363384	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363385	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363386	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363387	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363388	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363389	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363390	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363391	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)
essv12363392	Submitted genomic		NC_000006.11:g.(55 825917_55825931)_( 55846709_55846723) del	GRCh37 (hg19)		NC_000006.11	Chr6	55,825,924 (-7, +7)	55,846,716 (-7, +7)

dbVar

Database of genomic structural variation

esv3609081

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.