esv3857194

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:12
Validation:Not tested
Clinical Assertions: No
Region Size:19,382

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: 624 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):28,698,595-28,719,976

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3857194	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
esv3857194	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21524663	deletion	HG00106	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,290
essv21524664	deletion	HG00177	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,002
essv21524665	deletion	HG00243	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,579
essv21524666	deletion	HG00326	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,173
essv21524667	deletion	HG02594	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,073
essv21524668	deletion	HG03228	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,711
essv21524669	deletion	HG04017	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,502
essv21524670	deletion	NA07357	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,777
essv21524671	deletion	NA18641	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,241
essv21524672	deletion	NA18740	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,501
essv21524673	deletion	NA19921	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,712
essv21524674	deletion	NA20759	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,723

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21524663	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524664	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524665	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524666	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524667	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524668	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524669	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524670	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524671	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524672	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524673	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524674	Remapped	Perfect	NC_000009.12:g.(28 698595_28700095)_( 28718476_28719976) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,699,595 (-1000, +500)	28,718,976 (-500, +1000)
essv21524663	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524664	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524665	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524666	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524667	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524668	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524669	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524670	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524671	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524672	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524673	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)
essv21524674	Submitted genomic		NC_000009.11:g.(28 698593_28700093)_( 28718474_28719974) del	GRCh37 (hg19)		NC_000009.11	Chr9	28,699,593 (-1000, +500)	28,718,974 (-500, +1000)

dbVar

Database of genomic structural variation

esv3857194

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.