esv3847535

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:14
Validation:Not tested
Clinical Assertions: No
Region Size:9,982

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: 1086 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):162,313,336-162,323,483

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847535	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
esv3847535	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20474557	deletion	HG00176	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,419
essv20474558	deletion	HG00479	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv20474559	deletion	HG00593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv20474560	deletion	HG01051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,715
essv20474561	deletion	HG01323	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv20474562	deletion	HG01864	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,552
essv20474563	deletion	HG01874	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,226
essv20474564	deletion	HG03084	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,128
essv20474565	deletion	HG03593	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,481
essv20474566	deletion	NA18534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,434
essv20474567	deletion	NA18537	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,313
essv20474568	deletion	NA18565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272
essv20474569	deletion	NA19076	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv20474570	deletion	NA19448	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20474557	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474558	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474559	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474560	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474561	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474562	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474563	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474564	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474565	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474566	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474567	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474568	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474569	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474570	Remapped	Perfect	NC_000006.12:g.(16 2313336_162313440) _(162323421_162323 483)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,313,440 (-104, +0)	162,323,421 (-0, +62)
essv20474557	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474558	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474559	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474560	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474561	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474562	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474563	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474564	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474565	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474566	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474567	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474568	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474569	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)
essv20474570	Submitted genomic		NC_000006.11:g.(16 2734368_162734472) _(162744453_162744 515)del	GRCh37 (hg19)		NC_000006.11	Chr6	162,734,472 (-104, +0)	162,744,453 (-0, +62)

dbVar

Database of genomic structural variation

esv3847535

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.