esv3823610

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:10
Validation:Not tested
Clinical Assertions: No
Region Size:10,761

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

Remapped(Score: Perfect):28,882,720-28,895,480

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3823610	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
esv3823610	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17584561	deletion	HG00410	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,431
essv17584562	deletion	HG01847	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,298
essv17584563	deletion	HG02031	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,301
essv17584564	deletion	HG02050	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,678
essv17584565	deletion	NA18633	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,556
essv17584566	deletion	NA18948	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,749
essv17584567	deletion	NA18978	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,381
essv17584568	deletion	NA19001	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,369
essv17584569	deletion	NA19058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,502
essv17584570	deletion	NA19064	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,315

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17584561	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584562	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584563	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584564	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584565	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584566	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584567	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584568	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584569	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584570	Remapped	Perfect	NC_000002.12:g.(28 882720_28884220)_( 28893980_28895480) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	28,883,720 (-1000, +500)	28,894,480 (-500, +1000)
essv17584561	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584562	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584563	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584564	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584565	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584566	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584567	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584568	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584569	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)
essv17584570	Submitted genomic		NC_000002.11:g.(29 105586_29107086)_( 29116846_29118346) del	GRCh37 (hg19)		NC_000002.11	Chr2	29,106,586 (-1000, +500)	29,117,346 (-500, +1000)

dbVar

Database of genomic structural variation

esv3823610

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.